皮膚科臨床アセット　20　日常診療において忘れてはならない皮膚科症候群

出版社： 中山書店
著者：
発行日： 2013-10-25
分野： 臨床医学：内科  >  皮膚科
ISBN： 9784521733579
シリーズ： 皮膚科臨床アセット
電子書籍版： 2013-10-25 （初版第1刷）
書籍・雑誌
≪全国送料無料でお届け≫
取寄せ目安：8～14営業日

15,950 円(税込)

購入する
電子書籍
章別単位での購入はできません
ブラウザ、アプリ閲覧

15,950 円(税込)

購入する

商品紹介

代表的な皮膚疾患との鑑別に着目し，症候群を疑う手がかりを明示した，わかりやすい構成．それぞれの症候群は概念・定義，病因，臨床症状から鑑別診断，治療まで，写真を多用し，ていねいに解説した．また同義語やOMIM，皮膚症状や全身症状，キーワードも掲載．皮膚科医の日常診療の迷いを払拭する待望の一冊．

目次

  • 皮膚科臨床アセット　20
    日常診療において忘れてはならいない皮膚科症候群

    ―目次―

    1．アトピー性皮膚炎と考えたとき忘れてはならない症候群
    2．手湿疹と考えたとき忘れてはならない症候群
    3．蕁麻疹と考えたとき忘れてはならない症候群
    4．環状紅斑と考えたとき忘れてはならない症候群
    5．中毒疹と考えたとき忘れてはならない症候群
    6．紅皮症と考えたとき忘れてはならない症候群
    7．水疱症と考えたとき忘れてはならない症候群
    8．光線過敏症と考えたとき忘れてはならない症候群
    9．魚鱗癬と考えたとき忘れてはならない症候群
    10．表皮母斑と考えたとき忘れてはならない症候群
    11．掌蹠角化症と考えたとき忘れてはならない症候群
    12．掌蹠膿疱症と考えたとき忘れてはならない症候群
    13．面皰と考えたとき忘れてはならない症候群
    14．白斑と考えたとき忘れてはならない症候群
    15．白皮症と考えたとき忘れてはならない症候群
    16．皮膚萎縮と考えたとき忘れてはならない症候群
    17．多形皮膚萎縮と考えたとき忘れてはならない症候群
    18．ポートワイン母斑と考えたとき忘れてはならない症候群
    19．血管腫と考えたとき忘れてはならない症候群
    20．リンパ浮腫と考えたとき忘れてはならない症候群
    21．黒子と考えたとき忘れてはならない症候群
    22．多発性皮膚腫瘍と考えたとき忘れてはならない症候群
    23．人工皮膚炎と考えたとき忘れてはならない症候群

この書籍の参考文献

参考文献のリンクは、リンク先の都合等により正しく表示されない場合がありますので、あらかじめご了承下さい。

本参考文献は電子書籍掲載内容を元にしております。

I アトピー性皮膚炎と考えたとき忘れてはならない症候群

P.2 掲載の参考文献
1) Davis SD, Schaller J, Wedgwood RJ. Job's syndrome. Recurrent," cold", staphylococcal abscesses. Lancet 1966 ; 287 : 1013-5.
 
2) Buckley RH, Wray BB, Belmaker EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics 1972 ; 49 : 50-70.
 
3) Buckley RH. The hyper-IgE syndrome. Clin Rev Allergy Immunol 2001 ; 20 : 139-54.
PubMed
4) Minegishi Y, Saito M, Morio T, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 2006 ; 25 : 745-55.
PubMed
5) Tangye SG, Cook MC, Fulcher DA. Insights into the role of STAT3 in human lymphocyte differentiation as revealed by the hyper-IgE syndrome. J Immunol 2009 ; 182 : 21-8.
PubMed
6) Hill HR, Quie PG, Pabst HF, et al. Defect in neutrophil granulocyte chemotaxis in Job's syndrome of recurrent "cold" staphylococcal abscesses. Lancet 1974 ; 14 : 617-9.
 
7) 室田浩之, 岩田賢治, 宿輪哲生, ほか. Job症候群-アトピー性皮膚炎との鑑別を要した症例. 皮膚病診療 2004 ; 26 : 183-6.
 
8) Grimbacher B, Holland SM, Gallin JI, et al. Hyper-IgE syndrome with recurrent infections-an autosomal dominant multisystem disorder. N Engl J Med 1999 ; 340 : 692-702.
PubMed
9) Burns T, Breathnach S, Cox N, et al, editors. Rook's Text Book of Dermatology. 8th ed. Oxford : Wiley-Blackwell ; 2010. Chaptor 17. pp76-77.
 
10) Aihara Y, Mori M, Yokota S. Successful treatment of onychomycosis with fluconazole in two patients with hyperimmunoglobulin E syndrome. Pediatr Dermatol 1996 ; 13 : 493-5.
PubMed
11) Freeman AF, Kleiner DE, Nadiminti H, et al. Causes of death in hyper-IgE syndrome. J Allergy Clin Immunol 2007 ; 119 : 1234-40.
PubMed
P.6 掲載の参考文献
1) Netherton EW. A unique case of trichorrhexis nodosa-'bamboo hairs'. Arch Dermatol 1958 ; 78 : 483-7.
 
1) Natsuga K, Akiyama M, Shimizu H. Malignant skin tumors in patients with inherited ichthyosis. Br J Dermatol 2011 ; 165 : 263-8.
PubMed
2) Wilkinson RD, Curtis GH, Hark WA. Netherton's disease : trichorrhexis invaginata (bamboo hair), congenital ichthyosiform erythroderma and the atopic diathesis : a histopathologic study. Arch Dermatol 1964 ; 89 : 46-52.
 
3) Mizuno Y, Suga Y, Muramatsu S, et al. A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene. Br J Dermatol 2005 ; 153 : 661-3.
PubMed
4) Mizuno Y, Suga Y, Haruna K, et al. A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome. Clin Exp Dermatol 2006 ; 31 : 677-80.
PubMed
5) 水野優起, 須賀康, 春名邦隆, ほか. 順天堂大学皮膚科角化症専門外来で経験した小児Netherton症候群4症例の検討. 日皮会誌 2006 ; 116 : 1319-31.
 
6) 須賀康, 水野優起. Netherton (ネザートン) 症候群. 皮膚科セミナリウム 第47回 角化症. 日皮会誌 2009 ; 119 : 301-8.
 
7) Okkerse A, Orange AP, de Laat PC. Comel-Netherton syndrome. Br J Dermatol 1994 ; 131 : 725-6.
 
8) Chavanas S, Bodemer C, Rochat A, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000 ; 25 : 141-2.
PubMed
9) Ishida-Yamamoto A, Deraison C, Bonnart C, et al. LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum. J Invest Dermatol 2005 ; 124 : 360-6.
PubMed
10) Rakowska A, Kowalska-Oledzka E, Slowinska M, et al. Hair shaft videodermoscopy in netherton syndrome. Pediatr Dermatol 2009 ; 26 : 320-2.
PubMed
11) Briot A, Deraison C, Lacroix M, et al. Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome. J Exp Med 2009 ; 206 : 1135-47.
PubMed
12) Ong C, O'Toole EA, Ghali L, et al. LEKTI demonstrable by immunohistochemistry of the skin : a potential diagnostic skin test for Netherton syndrome. Br J Dermatol 2004 ; 151 : 1253-7.
 
13) Komatsu N, Suga Y, Saijoh K, et al. Elevated human tissue kallikrein levels in the stratum corneum and serum of peeling skin syndrome-type B patients suggests an over-desquamation of corneocytes. J Invest Dermatol 2006 ; 126 : 2338-42.
PubMed
14) Oji V, Eckl KM, Aufenvenne K, et al. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy : unraveling the peeling skin disease. Am J Hum Genet 2010 ; 87 : 274-81.
PubMed
15) Suga Y, Tsuboi R, Hashimoto Y, et al. A case of ichthyosis linearis circumflexa successfully treated with topical tacrolimus. J Am Acad Dermatol 2000 ; 42 : 520-2.
PubMed
16) Manabe M, Yoshiike T, Negi M, et al. Successful therapy of ichthyosis linearis circumflexa with PUVA. J Am Acad Dermatol 1983 ; 8 : 905-7.
PubMed
P.12 掲載の参考文献
1) Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood 2004 ; 103 : 456-64.
PubMed
2) 早川浩, 岩田力, 松井一郎, ほか. 原発性免疫不全症候群調査登録. 厚生省特定疾患免疫不全症候群調査研究班 平成5年度研究報告書. 1994. pp9-13.
 
3) Kim AS, Kakalis LT, Abdul-Manan N, et al. Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein. Nature 2000 ; 404 : 151-8.
PubMed
4) 篠原三秀, 田中洋一, 片山一朗, ほか. 汎発性の湿疹病変を呈した成人Wiskott-Aldrich症候群の1例. 日皮会誌 1999 ; 109 : 775-9.
 
5) Sullivan KE, Mullen CA, Blaese RM, et al. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 1994 ; 125 : 876-85.
PubMed
6) Saurat JH. Eczema in primary immune-deficiencies. Acta Derm Venereol (Stockh) 1985 ; 114 : 125-8.
PubMed
7) Nonoyama S, Ochs HD. Wiskott-Aldrich syndrome. Curr Allergy Asthma Rep 2001 ; 1 : 2-9.
 
8) Parkman R, Rappeport J, Geha R, et al. Complete correction of the Wiskott-Aldrich syndrome by alogeneic bone-marrow transplantation. N Engl J Med 1978 ; 298 : 921-7.
 
9) Mackie RM, Alcorn MJ, Stevenson RD, et al. Wiskott-Aldrich syndrome with partial response to transfer factor. Br J Dermatol 1978 ; 98 : 567-71.
PubMed
10) 野々山恵章. 骨髄移植によりアトピー様湿疹の著明な改善を認めたWiskott-Aldrich症候群の一例. アレルギーの臨床 1998 ; 18 : 739-41.
 
11) Filipovich AH, Stone JV, Tomany SC, et al. Impact of donor type on outcome of bone marrow transplantation for Wiskott-Aldrich syndrome ; collaborative study of the international bone marrow transplant registry and the national marrow donor program. Blood 2001 ; 97 : 1598-603.
PubMed
12) Knusten AP, Steffen M, Wassmer K, et al. Umbilical cord blood transplantation in Wiskott-Aldrich syndrome. J Pediatr 2003 ; 142 : 519-23.
 

II 手湿疹と考えたとき忘れてはならない症候群

P.16 掲載の参考文献
1) 池田公史, 監修. 肝細胞癌に対するソラフェニブ-チームネクサバール-国立がん研究センター東病院のチーム医療. 第2版. 東京 : メディカルレビュー社 ; 2012.
 
1) 山崎直也. CapecitabineとHand-Foot Syndrome. 癌治療と宿主 2004 ; 16 : 137-41.
Medical*Online
2) Minami H, Kawada K, Ebi H, et al. Phase I and pharmacokinetic study of sorafenib, an oral multikinase inhibitor, in Japanese patients with advanced refractory solid tumors. Cancer Sci 2008 ; 99 : 1492-8.
PubMed
3) Furuse J, Ishii H, Nakachi K, et al. Phase I study of sorafenib in Japanese patients with hepatocellular carcinoma. Cancer Sci 2008 ; 99 : 159-65.
PubMed
4) Akaza H, Tsukamoto T, Murai M, et al. Phase II study to investigate the efficacy, safety, and pharmacokinetics of sorafenib in Japanese patients with advanced renal cell carcinoma. Jpn J Clin Oncol 2007 ; 37 : 755-62.
PubMed
5) Cheng AL, Kang YK, Chen Z, et al. Efficacy and safety of sorafenib in patients in the Asia-Pacific region with advanced hepatocellular carcinoma : a phase III randomized, double-blind, placebo-controlled trial. Lancet Oncol 2009 ; 10 : 25-34.
 
6) Llovet JM, Ricci S, Mazzaferro V, et al. Sorafenib in advanced hepatocellular carcinoma. N Engl J Med 2008 ; 359 : 378-90.
PubMed
7) Escudier B, Eisen T, Stadler WM, et al. Sorafenib in advanced clear-cell renal-cell carcinoma. N Engl J Med 2007 ; 356 : 125-34.
PubMed
8) Diasio RB. Oral DPD-inhibitory fluoropyrimidine drugs. Oncology 2000 ; 14 : 19-23.
 
9) Robert C, Soria JC, Spatz A, et al. Cutaneous side-effects of kinase inhibitors and blocking antibodies. Lancet Oncol 2005 ; 6 : 491-500.
PubMed
10) 大江秀一, 水野可魚, 加藤典子, ほか. ソラフェニブによる手足皮膚反応 (Hand foot skin reaction). 日皮会誌 2010 ; 120 : 2015-22.
 
11) 山崎直也. Hand-foot syndrome. 臨皮 2009 ; 63 : 14-7.
 
12) 山崎直也, 末木博彦, 木村剛, ほか. ソラフェニブによる手足症候群-予防法と対処法. 皮膚病診療 2010 ; 32 : 836-40.
 
13) 清原祥夫. 分子標的薬による皮膚障害とその対策. 2012 ; 67 : 869-77.
 
14) 村田壱大, 川口雅一, 吉澤順子, ほか. 分子標的薬におけるHand-foot syndrome. 皮膚病診療 2012 ; 34 : 383-6.
 
P.20 掲載の参考文献
1) Nishikai M, Reichlin M. Heterogeneity of precipitating antibodies in polymyositis and dermatomyositis. Characterization of the Jo-1 antibody system. Arthritis Rheum 1980 ; 23 : 881-8.
PubMed
2) Yoshida S, Akizuki M, Mimori T, et al. The precipitating antibody to an acidic nuclear protein antigen, the Jo-1, in connective tissue diseases. A marker for a subset of polymyositis with interstitial pulmonary fibrosis. Arthritis Rheum 1983 ; 26 : 604-11.
 
3) Love LA, Leff RL, Fraser DD, et al. A new approach to the classification of idiopathic inflammatory myopathy : myositis-specific autoantibodies define useful homogeneous patient groups. Medicine (Baltimore) 1991 ; 70 : 360-74.
 
4) Marguerie C, Bunn CC, Beynon HL, et al. Polymyositis, pulmonary fibrosis and autoantibodies to aminoacyl-tRNA synthetase enzymes. Q J Med 1990 ; 77 : 1019-38.
PubMed
5) Climent-Albaladejo A, Saiz-Cuenca E, Rosique-Roman J, et al. Dermatomyositis sine myositis and antisynthetase syndrome. Joint Bone Spine 2002 ; 69 : 72-5.
PubMed
6) Hirakata M, Suwa A, Nagai S, et al. Anti-KS : identification of autoantibodies to asparaginyl-transfer RNA synthetase associated with interstitial lung disease. J Immunol 1999 ; 162 : 2315-20.
PubMed
7) Howard OM, Dong HF, Yang D, et al. Histidyl-tRNA synthetase and asparaginyl-tRNA synthetase, autoantigens in myositis, activate chemokine receptors on T lymphocytes and immature dendritic cells. J Exp Med 2002 ; 196 : 781-91.
 
8) Matsushita T, Hasegawa M, Fujimoto M, et al. Clinical evaluation of anti-aminoacyl tRNA synthetase antibodies in Japanese patients with dermatomyositis. J Rheumatol 2007 ; 34 : 1012-8.
PubMed
9) Hirakata M, Nagai S. Interstitial lung disease in polymyositis and dermatomyositis. Curr Opin Rheumatol 2000 ; 12 : 501-8.
PubMed
10) Oddis CV, Medsger TA Jr, Cooperstein LA. A subluxing arthropathy associated with the anti-Jo-1 antibody in polymyositis/dermatomyositis. Arthritis Rheum 1990 ; 33 : 1640-5.
PubMed
11) Targoff IN, Trieu EP, Plotz PH, et al. Antibodies to glycyl-transfer RNA synthetase in patients with myositis and interstitial lung disease. Arthritis Rheum 1992 ; 35 : 821-30.
PubMed
12) Friedman AW, Targoff IN, Arnett FC. Interstitial lung disease with autoantibodies against aminoacyl-tRNA synthetases in the absence of clinically apparent myositis. Semin Arthritis Rheum 1996 ; 26 : 459-67.
PubMed
13) Joffe MM, Love LA, Leff RL, et al. Drug therapy of the idiopathic inflammatory myopathies : predictors of response to prednisone, azathioprine, and methotrexate and a comparison of their efficacy. Am J Med 1993 ; 94 : 379-87.
 

III 蕁麻疹と考えたとき忘れてはならない症候群

P.24 掲載の参考文献
1) Amlot PL, Kemeny DM, Zachary C, et al. Oral allergy syndrome (OAS) : symptoms of IgE-mediated hypersensitivity to foods. Clin Allergy 1987 ; 17 : 33-42.
PubMed
2) Ortolani C, Ispano M, Pastorello E, et al. The oral allergy syndrome. Ann Allergy 1988 ; 61 : 47-52.
PubMed
3) 猪又直子. 口腔アレルギー症候群. 中村丁次, ほか編. 食物アレルギー A to Z. 東京 : 第一出版 ; 2010. pp25-31.
 
4) Mari A, Ballmer-Weber BK, Vieths S. The oral allergy syndrome : improved diagnostic and treatment methods. Curr Opin Allergy Clin Immunol 2005 ; 5 : 267-73.
PubMed
5) 鼻アレルギー診療ガイドライン作成委員会. 鼻アレルギー診療ガイドライン-通年性鼻炎と花粉症. 2005年版 (改訂第5版). 東京 : ライフ・サイエンス ; 2005. p21.
 
6) Maeda N, Inomata N, Morita A, et al. Correlation of oral allergy syndrome due to plant-derived foods with pollen sensitization in Japan. Ann Allergy Asthma Immunol 2010 ; 104 : 205-10.
PubMed
7) 猪又直子. 口腔アレルギー症候群. J Environ Dermatol Cutan Allergol 2010 ; 4 : 125-36.
Medical*Online
8) 河原秀俊, 赤澤晃. 小児科におけるOral allergy syndrome. アレルギー・免疫 2001 ; 8 : 882-5.
 
9) Hasegawa M, Inomata N, Yamazaki H, et al. Clinical features of four cases with cashew nut allergy and cross-reactivity between cashew nut and pistachio. Allergol Int 2009 ; 58 : 209-15.
PubMed
10) 猪又直子, 守田亜希子, 桐野実緒, ほか. 植物性食物による口腔アレルギー症候群63例の検討-原因食物ごとの皮膚試験と特異IgE測定における陽性率の比較及び花粉感作状況について. アレルギー 2007 ; 56 : 1276-84.
 
11) Inomata N, Okazaki F, Moriyama T, et al. Identification of Peamaclein, Pru p 7 as a novel allergen marker of severity in peach allergy. (submitted)
 
12) Yagami T. Allergies to cross-reactive plant proteins. Latex-fruit syndrome is comparable with pollen-food allergy syndrome. Int Arch Allergy Immunol 2002 ; 128 : 271-9.
PubMed
13) 猪又直子. 口腔アレルギー症候群と蕁麻疹. 皮膚科臨床アセット 16. 蕁麻疹・血管性浮腫パーフェクトマスター. 東京 : 中山書店 ; 2013. pp178-85.
 
14) Gajhede M, Osmark P, Poulsen FM, et al. X-ray and NMR structure of Bet v 1, the origin of birch pollen allergy. Nat Struct Biol 1996 ; 3 : 1040-5.
 
15) 猪又直子, 相原道子. 成人の食物アレルギーの特徴, 原因食物, 自然史. Visual Dermatology 2012 ; 11 : 272-9.
 
16) Inomata N, Nomura Y, Hakuta A, et al. Food allergies induced by epicutaneous sensitization. (submitted)
 
17) Inomata N, Morita A, Sawaki H, et al. Case of rice allergy induced by epicutaneous sensitization to rice bran due to handling rice bran pickles. J Dermatol 2012 ; 39 : 1079-80.
 
18) Morita A, Inomata N, Aihara M. Occupational contact urticaria syndrome due to lettuce. (submitted)
 
19) 山口絢子, 猪又直子, 広門未知子, ほか. シーフードによる職業性の接触蕁麻疹と口腔アレルギー症候群の1例. アレルギー 2006 ; 56 : 49-53.
 
20) 三河春樹. アレルギー疾患の疫学的研究について. 平成8年度厚生省長期慢性疾患総合研究事業アレルギー総合研究報告書. 1997. pp131-3.
 
21) Sampson HA. Food allergy. J Allergy Clin Immunol 2004 ; 113 : 805-19.
PubMed
22) 猪又直子, 池澤善郎. アレルギー性蕁麻疹の見方・捉え方. J Environ Dermatol Cutan Allergol 2006 ; 14 : 73-80.
 
23) 猪又直子. 進化するアレルギー診断学 : component-resolved diagnosticsの考え方とその応用. 日本小児アレルギー学会誌 2011 ; 25 : 36-49.
 
24) 守田亜希子, 猪又直子, 桐野実緒, ほか. 横浜近郊における, ハンノキ花粉感作と植物性食物による口腔アレルギー症候群の関連について. アレルギー 2008 ; 57 : 138-46.
Medical*Online
25) Dreborg S, Foucard T. Allergy to apple, carrot and potato in children with birch pollen allergy. Allergy 1983 ; 38 : 167-72.
PubMed
26) Lombardero M, Garcia-Selles FJ, Polo F, et al. Prevalence of sensitization to Artemisia allergens Art v 1, Art v 3 and Art v 60 kDa. Cross-reactivity among Art v 3 and other relevant lipid-transfer protein allergens. Clin Exp Allergy 2004 ; 34 : 1415-21.
PubMed
27) Kazemi-Shirazi L, Niederberger V, Linhart B, et al. Recombinant marker allergens : diagnostic gatekeepers for the treatment of allergy. Int Arch Allergy Immunol 2002 ; 127 : 259-68.
PubMed
28) Asero R. Effects of birch pollen-specific immunotherapy on apple allergy in birch pollen-hypersensitive patients. Clin Exp Allergy 1998 ; 28 : 1368-73.
PubMed
29) Kinaciyan T, Jahn-Schmid B, Radakovics A, et al. Successful sublingual immunotherapy with birch pollen has limited effects on concomitant food allergy to apple and the immune response to the Bet v 1 homolog Mal d 1. J Allergy Clin Immunol 2007 ; 119 : 937-43.
 
P.32 掲載の参考文献
1) Asli B, Brouet JC, Fermand JP. Spontaneous remission of Schnitzler syndrome. Ann Allergy Asthma Immunol 2011 ; 107 : 87-8.
PubMed
1) Schnitzler L. Lesion urticariennes chroniques permanents (erytheme petaloide?). Case cliniques n. 46B (Abstr. 46). J Dermatol Angers 1972 ; 28.
 
2) Husak R, Nestoris S, Goerdt S, et al. Severe course of chronic urticarial, arthralgia, fever and elevation of erythrocyte sedimentation rate : Schnitzler's syndrome without monoclonal gammopathy? Br J Dermatol 2000 ; 142 : 581-2.
 
2) Asli B, Bienvenu B, Cordoliani F, et al. Chronic urticaria and monoclonal IgM gammopathy (Schnitzler syndrome) : report of 11 cases treated with pefloxacin. Arch Dermatol 2007 ; 143 : 1046-50.
PubMed
3) de Koning HD, Bodar EJ, van der Meer JW, et al. Schnitzler syndrome : beyond the case reports : review and follow-up of 94 patients with an emphasis on prognosis and treatment. Semin Arthritis Rheum 2007 ; 37 : 137-48.
PubMed
3) Volz T, Wolbing F, Fisher J, et al. Dermal interleukin-1 expression and effective and long-lasting therapy with interleukin-1 receptor antagonist anakinra in Schnitzler syndrome. Acta Derm Venereol 2012 ; 92 : 393-4.
 
4) 調裕次, 高木圭一, 川津智是, ほか. Schnitzler's syndromeの1例. 日皮会誌 2001 ; 111 : 947-53.
 
5) de Castro FR, Masouye I, Winklemann RK, et al. Urticarial pathology in Schnitzler's (hyper IgM) syndrome. Dermatology 1996 ; 193 : 94-9.
 
6) Krause K, Feist E, Fiene M, et al. Complete remission in 3 of 3 anti-IL-6-treated patients with Schnitzler syndrome. J Allergy Clin Immunol 2012 ; 129 : 848-50.
PubMed
7) Loock J, Lamprechat P, Timmann C, et al. Genetic predisposition (NLRP3 V198M mutation) for IL-1-mediated inflammation in a patient with Schnitzler's syndrome. J Allergy Clin Immunol 2010 ; 125 : 500-2.
 
8) Sokumbi O, Drage LA, Peters MS. Clinical and histopathologic review of Schnitzler syndrome : the Mayo Clinic experience (1972-2011). J Am Acad Dermatol 2012 ; 67 : 1289-95.
 
9) Lipsker D, Veran Y, Grunenberger F, et al. The Schnitzler syndrome : four new cases and review of the literature. Medicine 2001 ; 80 : 37-44.
PubMed
10) 末次香織, 大久保ゆかり, 瀬戸山充, ほか. Schnitzler症候群-bath-PUVA 療法が有効であった例. 皮膚病診療 2010 : 32 ; 419-22.
 
11) Tinazzi E, Puccetti A, Patuzzo G, et al. Schnitzler syndrome, an autoimmune-autoinflammatory syndrome : report of two new cases and review of the literature. Autoimmun Rev 2011 ; 10 : 404-9.
PubMed
12) Thonhofer R, Uitz E, Graninger W. Schnitzler's syndrome-exacerbation after anti-TNF treatment. Rheumatology 2007 ; 46 : 1041-2.
 
13) Gran JT, Midtvedt O, Haug S, et al. Treatment of Schnitzler's syndrome with anakinra : report of three cases and review of the literature. Scand J Rheumatol 2011 ; 40 : 74-9.
 
P.36 掲載の参考文献
1) McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999 ; 97 : 133-44.
PubMed
1) 楠原浩一. 自己炎症性疾患の診断と治療. 小児感染免疫 2010 ; 22 : 43-51.
 
2) Galeazzi M, Gasbarrini G, Ghirardello A, et al. Autoinflammatory syndromes. Clin Exp Rheumatol 2006 ; 24 (1 Suppl 40) : S79-85.
 
3) Hoffman HM, Mueller JL, Broide DH, et al. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001 ; 29 : 301-5.
PubMed
4) Feldmann J, Prieur AM, Quartier P, et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 2002 ; 71 : 198-203.
PubMed
5) Neven B, Prieur AM, Petty RE. Cryopyrin-associated periodic syndrome. In : Cassidy JT, et al, editors. Textbook of Pediatric Rheumatology. 5th ed. Philadelphia : Elservier Saunders ; 2005. pp671-5.
 
6) Franchi L, McDonald C, Kanneganti TD, et al. Nucleotide-binding oligomerization domain-like receptors : intracellular pattern recognition molecules for pathogen detection and host defense, J Immunol 2006 ; 177 : 3507-13.
PubMed
7) Agostini L, Martinon F, Burns K, et al. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 2004 ; 20 : 319-25.
 
8) 藤澤章弘, 神戸直智, 齋藤潤, ほか. クライオピリン関連周期熱症候群 (cryopyrin-associated periodic fever syndrome) の1家系例. 日皮会誌 2007 ; 117 : 1445-50.
 

IV 環状紅斑と考えたとき忘れてはならない症候群

P.41 掲載の参考文献
1) Anaya J-M, Delgado-Vega AM, Castiblanco J. Genetic basis of Sjogren's syndrome. How strong is the evidence? Clin Dev Immunol 2006 ; 13 : 209-22.
PubMed
1) 臼田俊和. Sjogren症候群. 玉置邦彦, ほか編. 最新皮膚科学大系 9. 膠原病 非感染性肉芽腫. 東京 : 中山書店 ; 2004. pp142-54.
 
2) 加茂紘一郎, 長島正治. Sjogren症候群-紅斑を主訴とした1例を中心にして. 臨皮 1976 ; 30 : 761-71.
 
2) 日本シェーグレン症候群研究会, 編. シェーグレン症候群の診断と治療マニュアル. 東京 : 診断と治療社 ; 2009.
 
3) 楠舞, 新井達, 新山奈々子, ほか. 長期経過からみたシェーグレン症候群の環状紅斑の特徴. 第31回皮膚脈管膠原病研究会抄録集. 2008. p25.
 
3) 菅井進. シェーグレンと共に. 金沢 : 前田書店 ; 2007.
 
4) 藤林孝司, 菅井進, 宮坂信之, ほか. シェーグレン症候群改訂診断基準. 厚生省特定疾患免疫疾患調査研究班平成10年度研究報告書. 1999. pp135-8.
 
5) Shiboski SC, Shiboski CH, Criswell LA, et al. American College of Rheumatology classification criteria for Sjogren's syndrome : a data-driven, expert consensus approach in the Sjogren's International Collaborative Clinical Alliance cohort. Arthritis Care Res 2012 ; 64 : 475-87.
 
6) 竹中祐子, 林伸和. 環状紅斑. 日皮会誌 2008 ; 118 : 2407-14.
 
P.46 掲載の参考文献
1) Tabanlioglu D, Ersoy-Evans S, Karaduman A. Acrodermatitis enteropathica-like eruption in metabolic disorders : acrodermatitis dysmetabolica is proposed as a better term. Pediatr Dermatol 2009 ; 26 : 150-4.
PubMed
1) Chastain M. The glucagonoma syndrome : a review of its features and discussion of new perspectives. Am J Med Sci 2001 ; 321 : 306-20.
PubMed
2) Itin P. Cutaneous changes in errors of amino acid metabolism. In : Wolff K, et al, editors. Fitzpatrick's Dermatology in General Medicine. 7th ed. New York : McGraw-Hill ; 2008. pp1219-20.
 
3) 森下恵理, 根岸晶, 相原道子, ほか. エトレチナートが著効したグルカゴノーマを伴った壊死性遊走性紅斑の1例. 皮膚臨床 2011 ; 53 : 827-31.
 
4) 和田誠, 花田圭司, 保田宏明, ほか. グルカゴノーマ診断の契機になった壊死性遊走性紅斑の1例. 皮膚臨床 2012 ; 54 : 237-9.
 

V 中毒疹と考えたとき忘れてはならない症候群

P.49 掲載の参考文献
1) Sugai T. Contact dmatitis syndrome. Environ Dermatol 2001 ; 8 : 55-8.
 
2) Thompson JA, Wansker BA. A case of contact dermatitis, erythema multiforme and toxic epidermal necrolysis. J Am Acad Dermatol 1981 ; 5 : 666-9.
PubMed
3) Rietschel RL, Fowler JF Jr. Systemic contact-type dermatitis. In : Fisher's Contact Dermatitis. 4th ed. Baltimore : Lippincott Williams & Wilkins ; 1995. pp114-29.
 
4) Klaus EA, Niels H, Torkil M. The baboon syndrome : systemically-induced allergic contact dermatitis. Contact Dermatitis 1984 ; 10 : 97-100.
 
5) 秦 直子, 鷲見康子, 八代浩, ほか. 水銀による全身性接触皮膚炎. 皮膚病診療 2005 ; 27 : 1047-50.
 
6) 中西健史, 須貝哲郎, 流田妙子, ほか. 職業性接触皮膚炎症候群の2例. 皮膚 1992 ; 34 : 233-7.
 
7) 足立厚子. 金属アレルギーによる皮膚症状. アレルギーの臨床 2007 ; 27 : 805-10.
 
P.54 掲載の参考文献
1) Gianotti F. Relievi di una particolare casistica tossinfettiva caraterizzata de eruzione eritemato-infiltrativa desquamativa a foccolai lenticolari, a sede elettiva acroesposta. G Ital Dermatol 1955 ; 96 : 678-9.
 
2) De Gaspari G, Bardare M, Costantino D. AU antigen in Crosti-Gianotti acrodermatitis. Lancet 1970 ; 1 : 1116-7.
PubMed
3) Konno M, Kikuta H, Ishikawa N, et al. A possible association between hepatitis-B antigen-negative infantile popular acrodermatitis and Epstein-Barr virus infection. J Pediatr 1982 ; 101 : 222-4.
 
4) Brandt O, Abeck D, Gianotti R, et al. Gianotti-Crosti syndrome. J Am Acad Dermatol 2006 ; 54 : 136-45.
PubMed
5) Caputo R, Gelmetti C, Ermacora E, et al. Gianotti-Crosti syndrome : a retrospective analysis of 308 cases. J Am Acad Dermatol 1992 ; 26 : 207-10.
 
6) 森嶋智津子, 森嶋隆文, 落合豊子. Gianotti-Crosti症候群-EBウイルス初感染例の臨床統計と顔面限局型を中心に. 皮膚臨床 1999 ; 41 : 913-21.
 
7) 石丸哲郎, 石丸博子. 愛媛県松山市及びその周辺地区におけるGianotti病の実態. 最新医学 1976 ; 31 : 812-20.
 
8) Michitaka K, Horiike N, Chen Y, et al. Gianotti-Crosti syndrome caused by acute hepatitis B virus genotype D infection. Int Med 2004 ; 48 : 696-9.
 
9) 森嶋智津子, 森嶋隆文, 落合豊子. Gianotti-Crosti症候群-EBウイルス初感染例の最近の動向とサイトメガロウイルス感染例を中心に. 日本小児皮膚科学会雑誌 1999 ; 18 : 53-8.
 
10) Yasumoto S, Tsujita J, Imayama S, et al. Case report : Gianotti-Crosti syndrome associated with herpesvirus-6 infection. J Dermatol 1996 ; 23 : 499-501.
PubMed
11) Chuh AAT, Chan HL, Seng SS, et al. A prospective case control study of the association of Gianotti-Crosti syndrome with human herpesvirus 6 and human herpesvirus 7 infections. Pediatr Dermatol 2002 ; 19 : 492-7.
 
12) Dauendorffer JN, Dupuy A. Gianotti-Crosti syndrome associated with herpes simplex virus type 1 gingivostomatitis. J Am Acad Dermatol 2011 ; 64 : 450-1.
PubMed
13) Blauvelt A, Turner ML. Gianotti-Crosti syndrome and human immunodeficiency virus infection. Arch Dermatol 1994 ; 130 : 481-3.
PubMed
14) Karakas M, Durdu M, Tuncer I, et al. Gianotti-Crosti syndrome in a child following hepatitis B virus vaccination. J Dermatol 2007 ; 34 : 117-20.
 
15) Kwon NH, Kim JE, Cho BK, et al. Gianotti-Crosti syndrome following novel influenza A (H1N1) vaccination. Ann Dermatol 2011 ; 23 : 554-5.
PubMed
16) Lam JM. Atypical Gianotti-Crosti syndrome following administration of the AS03-adjuvanted H1N1 vaccine. J Am Acad Dermatol 2011 ; 65 : e127-8.
PubMed
P.58 掲載の参考文献
1) Bastuji-Garins S, Rzany B, Stern RS, et al. Clinical classification of cases of toxic epidermal necrolysis, Stevens-Johnson syndrome, and erythema multiforme. Arch Dermatol 1993 ; 129 : 92-6.
 
2) Schneck J, Stat D, Fagot J-P, et al. Effects of treatments on the mortality of Stevens-Johnson syndrome and toxic epidermal necrolysis : a retrospective study on patients included in the prospective EuroSCAR Study. J Am Acad Dermatol 2008 ; 58 : 33-40.
 
3) 北見周, 渡辺秀晃, 末木博彦, ほか. Stevens-Johnson症候群ならびに中毒性表皮壊死症の全国疫学調査-平成20年度厚生労働科学研究費補助金 (難治性疾患克服研究事業) 重症多形滲出性紅斑に関する調査研究. 日皮会誌 2011 ; 121 : 2467-87.
 
4) Kunimi Y, Hirata Y, Aihara M, et al. Statistical analysis of Stevens-Johnson syndrome caused by Mycoplasma pneumonia infection in Japan. Allergol Int 2011 ; 60 : 525-32.
 
5) Chung WH, Hung SI, Yang JY, et al. Granulysin is a key mediator for disseminated keratinocyte death in Stevens-Johnson syndrome and toxic epidermal necrolysis. Nat Med 2008 ; 14 : 1343-50.
PubMed
6) Murata J, Abe R, Shimizu H. Increased soluble Fas ligand levels in patients with Stevens-Johnson syndrome and toxic epidermal necrolysis preceding skin detachment. J Allergy Clin Immunol 2008 ; 122 : 992-1000.
PubMed
7) Stur K, Karlhofer FM, Stingle G. Soluble FAS ligand : a discriminating feature between drug-induced skin eruptions and viral exanthemas. J Invest Dermatol 2007 ; 127 : 802-7.
 
8) Tohyama M, Shirakata Y, Sayama K, et al. A marked increase in serum soluble Fas ligand in drug-induced hypersensitivity syndrome. Br J Dermatol 2008 ; 159 : 979-95.
 
9) 上田真由美, 外園千恵子. SJS/TENの眼症状の治療と後遺症. 相原道子, 編. 皮膚科臨床アセット 2. 薬疹診療のフロントライン. 東京 : 中山書店 ; 2011. pp107-10.
 
10) Tohkin M, Kaniwa N, Saito Y, et al. A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. Pharmacogenomics J 2013 ; 13 : 60-9.
 
11) Kaniwa N, Saito Y, Aihara M, et al. HLA-B*1511 is a risk factor for carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. Epilepsia 2010 ; 51 : 2461-5.
PubMed
12) Ozeki T, Mushiroda T, Yowang A, et al. Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population. Hum Mol Genet 2011 ; 20 : 1034-41.
PubMed
13) MacCormack M, Ana Alfirevic BA, Bourgeois S, et al. HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med 2011 ; 364 : 1134-43.
 
14) 奥山康裕, 山田裕道, 池田志斈. 中毒性表皮壊死症 (TEN) に対する血漿交換療法. 日本アフェレシス学会誌 2008 ; 27 : 139-44.
 
15) French LE, Trent JT, Kerdel FA. Use of intravenous immunoglobulin in toxic epidermal necrolysis and Stevens-Johnson syndrome : our current understanding. Int Immunopharmacol 2006 ; 6 : 543-9.
PubMed
16) 相原道子, 狩野葉子, 飯島正文, ほか. Stevens-Johnson症候群および中毒性表皮壊死症 (TEN) の治療指針-平成20年度厚生労働科学研究費補助金 (難治性疾患克服研究事業) 重症多形滲出性紅斑に関する調査研究班による治療指針2009の解説. 日皮会誌 2009 ; 119 : 2157-63.
 
P.63 掲載の参考文献
1) Suzuki Y, Inagi R, Aono T, et al. Human herpesvirus 6 infection as a risk factor of the development of severe drug-induced hypersensitivity. Arch Dermatol 1998 ; 134 : 1108-12.
PubMed
2) Tohyama M, Yahata Y, Yasukawa M, et al. Severe hypersensitivity syndrome due to sulfasalazine associated with reactivation of human herpesvirus 6. Arch Dermatol 1998 ; 134 : 1113-7.
PubMed
3) Montaudie H, Passeron T, Cardot-Leccia N, et al. Drug rash with eosinophilia and systemic symptoms due to telaprevir. Dermatology 2010 ; 221 : 303-5.
PubMed
4) Watanabe H, Tohyama M, Kamijima M, et al. Occupational trichloroethylene hypersensitivity syndrome with human herpesvirus-6 and cytomegalovirus reactivation. Dermatology 2010 ; 221 : 17-22.
PubMed
5) Picard D, Janela B, Descamps V, et al. Drug reaction with eosinophilia and systemic symptoms (DRESS) : a multiorgan antiviral T cell response. Sci Transl Med 2010 ; 2 : 46ra62.
 
6) Takahashi R, Kano Y, Yamazaki Y, et al. Defective regulatory T cells in patients with severe drug eruptions : timing of the dysfunction is associated with the pathological phenotype and outcome. J Immunol 2009 ; 182 : 8071-9.
PubMed
7) Shiohara T, Kano Y, Takahashi R, et al. Drug-induced hypersensitivity syndrome : recent advances in the diagnosis, pathogenesis and management. Chem Immunol Allergy 2012 ; 97 : 122-38.
PubMed
8) 平原和久. 薬剤性過敏症症候群 : 対症療法のみで軽快したDIHS. 池澤善郎, ほか編. 薬疹のすべて-エキスパートにまなぶ診療の実際. 東京 : 南江堂 ; 2008. pp144-8.
 
9) 厚生労働省科学研究費補助金 難治性疾患克服研究事業 (主任研究者 橋本公二) : 難治性疾患 (重症多形滲出性紅斑 (急性期を含む)) の画期的治療法に関する研究. 平成17年度総括・分担研究報告書. 2006. pp7-15.
 
10) Shiohara T, Iijima M, Ikezawa Z, et al. The diagnosis of a DRESS syndrome has been sufficiently established on the basis of typical clinical features and viral reactivations. Br J Dermatol 2007 ; 156 : 1083-4.
PubMed
11) Cacoub P, Musette P, Descamps V, et al. The DRESS syndrome : a literature review. Am J Med 2011 ; 124 : 588-97.
PubMed
12) 藤山幹子. 薬剤性過敏症症候群. 皮膚臨床 2012 ; 54 : 1447-53.
 
13) Shiohara T, Kurata M, Mizukawa Y, et al. Recognition of immune reconstitution syndrome necessary for better management of patients with severe drug eruption and those under immunosuppressive therapy. Allergol Int 2010 ; 59 : 333-43.
PubMed
14) Asano Y, Kagawa H, Kano Y, et al. Cytomegalovirus disease during severe drug eruptions : report of 2 cases and retrospective study of 18 patients with drug-induced hypersensitivity syndrome. Arch Dermatol 2009 ; 145 : 1030-6.
PubMed
15) Aota N, Hirahara K, Kano Y, et al. Systemic lupus erythematosus presenting with Kikuchi-Fujimoto's disease as a long-term sequele of drug-induced hypersensitivity syndrome. A possible role of Epstein-Barr virus reactivation. Dermatology 2009 ; 218 : 275-7.
 
16) Onuma H, Tohyama M, Imagawa A, et al. High frequency of HLA B62 in fulminant type 1 diabetes with the drug-induced hypersensitivity syndrome. J Clin Endocrinol Metab 2012 ; 97 : E2277-81.
PubMed
17) Ushigome Y, Kano Y, Ishida T, et al. Short-and long-term outcomes of 34 patients with drug-induced hypersensitivity syndrome in a single institution. J Am Acad Dermatol 2013 ; 68 : 721-8.
 

VI 紅皮症と考えたとき忘れてはならない症候群

P.67 掲載の参考文献
1) 石川博康, 小川俊一, 宮本貴庸, ほか. 毒素性ショック症候群 (Toxic shock syndrome) -典型的皮膚粘膜症状を呈した1例および本邦報告83例の統計的検討. 臨皮 2000 ; 54 : 385-91.
 
1) Wenisch C, Strunk D, Krause R, et al. Diagnostic value of Vβ2-positive T-cell expansion in toxic shock syndrome. Int J Dermatol 2007 ; 46 : 578-82.
 
2) 加藤研一, 田中孝也. 熱傷患者のMRSA感染症とtoxic shock syndrome. 日本臨牀 1992 ; 50 : 186-93.
 
3) Matsuda Y, Kato H, Yamada R, et al. Early and definitive diagnosis of toxic shock syndrome by detection of marked expansion of T-cell-receptor Vβ2-positive T cells. Emerg Infect Dis 2003 ; 9 : 387-9.
 
4) 金谷洋明, 平林秀樹, 深美悟, ほか. 鼻・副鼻腔手術後に発症した不全型toxic shock syndromeの2症例-診断におけるTCR Vβ2解析の有用性. 耳鼻咽喉科・頭頸部外科 2005 ; 77 : 55-9.
 
5) 山崎修, 岩月啓氏. TSS, TSLS. MB Derma 2007 ; 127 : 26-31.
 
6) 中山栄一. 劇症型溶血性連鎖球菌感染症. 小児科診療 2010 ; 73 : 1961-5.
Medical*Online
7) 中江孝, 平山文博, 橋本元範. Toxic shock syndrome toxin-1 (TSST-1) に対するヒト免疫グロブリン製剤による中和作用について. 感染症誌 2004 ; 73 : 195-202.
 
8) 林達彦, 吉澤麻由子, 渡辺直純, ほか. Toxic shock syndrome (TSS) に対し, 血液浄化療法 (持続的血液透析濾過 (CHDF), エンドトキシン吸着療法 (PMX-DHP)) を施行した2例. 日本外科感染症学会雑誌 2006 ; 3 : 167-70.
Medical*Online
9) 大国寿士, 留目優子, 沖林分規, ほか. 毒素性ショック症候群 (Toxic shock syndrome : TSS) -発生機序とその対策. 小児科診療 1996 ; 59 : 65-74.
 
P.71 掲載の参考文献
1) 十河香奈, 堀田健人, 栗原香子, ほか. 軽症熱傷から発生したToxic shock syndrome (TSS) の1例. 臨皮 2007 ; 61 : 73-6.
 
P.73 掲載の参考文献
1) 多田譲治. 伝染性膿痂疹. MB Derma 2004 ; 93 : 79-84.
 
2) 日野治子. ブドウ球菌性熱傷様皮膚症候群. 瀧川雅浩, ほか編. 皮膚疾患最新の治療 2013-2014. 東京 : 南江堂 ; 2013. p159.
 
3) 日野治子. その他の皮膚感染症. 日本感染症学会, 編. 感染症専門医テキスト 第I部 解説編. 東京 : 南江堂 ; 2011. pp727-37.
 
4) 西嶋攝子. 膿痂疹, SSSS. 日野治子, 編. こどもの発疹のみかた. 第3版. 東京 : 中外医学社 ; 2009. pp135-9.
 
5) Wu H, Brandling-Bennett HA, Harrist TJ. Noninfectious vesiculobullous and vesiculopustular diseases. In : Elder DE, et al, editors. Lever's Histopathology of the Skin. 10th ed. London : Lippincott Williams & Wilkins ; 2009. pp235-78.
 
6) Lucas S. Bacterial diseases. In : Elder DE, et al, editors. Lever's Histopathology of the Skin. 10th ed. London : Lippincott Williams & Wilkins ; 2009. pp539-78.
 
P.78 掲載の参考文献
1) 太藤重夫, 古川福実, 尾口基. 苔癬様丘疹に始まり, びまん性紅皮症様病変を生じた2症例. 皮膚科紀要 1979 ; 74 : 169-73.
 
2) Ofuji S, Furukawa F, Miyachi Y, et al. Papuloerythroderma. Dermatologica 1984 ; 169 : 125-30.
PubMed
3) 太藤重夫. 丘疹紅皮症. 皮膚科紀要 1988 ; 83 : 159-61.
 
4) Teraki Y, Aso Y, Sato Y. High incidence of internal malignancy in papuloerythroderma of Ofuji : a case series from Japan. Dermatology 2012 ; 224 : 5-9.
 
5) Torchia D, Miteva M, Hu S, et al. Papuloerythroderma 2009 : two new cases and systematic review of the worldwide literature 25 years after its identification by Ofuji et al. Dermatology 2010 ; 220 : 311-20.
PubMed
6) Seshadri D, Kanwar AJ, Handa S. Papuloerythroderma like eruption triggered by terbinafine. J Case Reports 2012 ; 2 : 57-9.
 
7) 太藤重夫, 三谷恒雄. 丘疹-紅皮症 四肢屈側に横走する皮疹欠如帯を呈した1例. 皮膚科紀要 1990 ; 85 : 499-500.
 
8) 桜井真也, 広田さち子, 山科幸夫, ほか. 丘疹-紅皮症症候群 (太藤) で初発した紅皮症の1例. 皮膚 1988 ; 30 : 514-9.
 
9) Harris DW, Spencer MJ, Tidman MJ. Papuloerythroderma-clinical and ultrastructural features. Clin Exp Dermatol 1990 ; 15 : 105-6.
PubMed
10) 杉田和成, 戸倉新樹. 菌状息肉症. Visual Dermatology 2009 ; 8 : 1288-93.
 
11) 小鍛治知子, 杉浦宏詩, 寺木祐一. イソニアジドによるpapuloerythroderma様の薬疹. 皮膚病診療 2005 ; 27 : 1189-92.
 
12) Sugita K, Kabashima K, Nakamura M, et al. Drug-induced papuloerythroderma : analysis of T-cell populations and a literature review. Acta Derm Venereol 2009 ; 89 : 618-22.
 
13) 戸倉新樹. 紅皮症型薬疹. アレルギー・免疫 2007 ; 14 : 441-5.
 
14) 杉田和成. 薬疹としての丘疹紅皮症. 宮地良樹, 編. WHAT'S NEW in皮膚科学 2012-2013. 東京 : メディカルレビュー社 ; 2012. pp76-7.
 
15) 段野貴一郎. 丘疹-紅皮症 (太藤). 玉置邦彦, ほか編. 最新皮膚科学大系 3. 湿疹 痒疹 掻痒症 紅皮症 蕁麻疹. 東京 : 中山書店 ; 2002. pp178-83.
 
16) Sugita K, Kabashima K, Nakashima D, et al. Papuloerythroderma of Ofuji induced by furosemide. J Am Acad Dermatol 2008 ; 58 : S54-5.
PubMed
17) 宮地良樹. papuloerythroderma (Ofuji). 玉置邦彦, ほか編. 最新皮膚科学大系 特別巻 2. 皮膚科症候群. 東京 : 中山書店 ; 2004. pp262-3.
 
18) 杉田和成, 戸倉新樹. 薬疹として発症した丘疹-紅皮症. J Environ Dermatol Cutan Allergol 2007 ; 1 : 85-9.
Medical*Online
19) 戸倉新樹. 薬剤性偽リンパ腫とリンパ腫. 塩原哲夫, 編. 皮膚科診療プラクティス 19. 薬疹を極める. 東京 : 文光堂 ; 2006. pp197-200.
 
20) Gordon KB, Guitart J, Kuzel T, et al. Pseudo-mycosis fungoides in a patient taking clonazepam and fluoxetine. J Am Acad Dermatol 1996 ; 34 : 304-6.
 
21) Michel S, Hohenleutner U, Landthaler M. Ofuji papuloerythroderma : PUVA bath treatment. Hautarzt 1999 ; 50 : 360-2.
PubMed
22) Berth-Jones J. Eczema, lichenification, prurigo and erythroderma. In : Burns T, et al, editors. Rook's Text Book of Dermatology. 8th ed. Oxford : Wiley-Blackwell ; 2010. pp50-51.
 
P.82 掲載の参考文献
1) Olsen EA, Whittaker S, Kim YH, et al. Clinical end points and response criteria in mycosis fungoides and Sezary syndrome : a consensus statement of the International Society for Cutaneous Lymphomas, the United States Cutaneous Lymphoma Consortium, and the Cutaneous Lymphoma Task Force of the European Organisation for Research and Treatment of Cancer. J Clin Oncol 2011 ; 29 : 2598-607.
 
2) Vonderheid EC, Bernengo MG, Burg G, et al. Update on erythrodermic cutaneous T-cell lymphoma : report of the International Society for Cutaneous Lymphomas. J Am Acad Dermatol 2002 ; 46 : 95-106.
PubMed
3) Miyagaki T, Sugaya M. Erythrodermic cutaneous T-cell lymphoma : how to differentiate this rare disease from atopic dermatitis. J Dermatol Sci 2011 ; 64 : 1-6.
PubMed
4) Kubica AW, Davis MD, Weaver AL, et al. Sezary syndrome : a study of 176 patients at Mayo Clinic. J Am Acad Dermatol 2012 ; 67 : 1189-99.
 

VII 水疱症と考えたとき忘れてはならない症候群

P.87 掲載の参考文献
1) Wullaert A, Bonnet MC, Pasparakis M. NF-κB in the regulation of epithelial homeostasis and inflammation. Cell Res 2011 ; 21 : 146-58.
 
1) Garrod AE. Peculiar pigmentation of the skin in an infant. Trans Clin Soc London 1906 ; 39 : 216.
 
2) Bloch B. Eigentumliche, bicher nicht beschriebene Pigmentafektion (Incontinentia pigmenti). Schweiz Med Wochenschr 1926 ; 7 : 404.
 
3) Sulzberger MB. Uber eine bisher nicht beschriebene kongenitale Pigmentanomalie (Incontinentia pigmenti). Arch f Derm u Syph 1928 ; 154 : 19.
 
4) Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti : a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002 ; 47 : 169-87.
PubMed
5) 石川博康, 高橋正明, 橋本功, ほか. Bloch-Sulzberger症候群-合趾症および眼底色素異常を伴った1例. 皮膚病診療 1988 ; 10 : 623-6.
 
6) Carney RG. Incontinentia pigmenti. A world statistical analysis. Arch Dermatol 1976 ; 112 : 535-42.
 
7) Smahi A, Courtois G, Vabres P, et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000 ; 405 : 466-72.
PubMed
8) Scheuerle AE. Male cases of incontinentia pigmenti : case report and review. Am J Med Genet 1998 ; 77 : 201-18.
PubMed
9) Kawai T, Nishikomori R, Heike T. Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency. Allergol Int 2012 ; 61 : 207-17.
PubMed
10) Makris C, Godfrey VL, Krahn-Senftleben G, et al. Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human Xlinked disorder incontinentia pigmenti. Mol Cell 2000 ; 5 : 969-79.
 
11) Jean-Baptiste S, O'Toole EA, Chen M, et al. Expression of eotaxin, an eosinophilselective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti. Clin Exp Immunol 2002 ; 127 : 470-8.
PubMed
12) Haber H. The Bloch-Sulzberger syndrome (incontinentia pigmenti). Br J Dermatol 1952 ; 64 : 129-40.
PubMed
P.91 掲載の参考文献
1) Kindler T. Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 1954 ; 66 : 104-11.
PubMed
2) Lai-Cheong JE, Tanaka T, Hawche G, et al. Kindler syndrome : a focal adhesion genodermatosis. Br J Dermatol 2009 ; 160 : 233-42.
 
3) Weary PE, Manley WF Jr, Graham GF. Hereditary acrokeratotic poikiloderma. Arch Dermatol 1971 ; 103 : 409-22.
PubMed
4) Jobard F, Bouadjar B, Caux F, et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet 2003 ; 12 : 925-35.
 
5) Siegel DH, Ashton GH, Penagos HG, et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 2003 ; 73 : 174-87.
PubMed
6) Has C, Castiglia D, del Rio M, et al. Kindler syndrome : extension of FERMT1 mutational spectrum and natural history. Hum Mutat 2011 ; 32 : 1204-12.
PubMed
P.94 掲載の参考文献
1) Wells GC. Recurrent granulomatous dermatitis with eosinophilia. Trans St Johns Hosp Dermatol Soc 1971 ; 57 : 46-56.
PubMed
2) Wells GC, Smith NP. Eosinophilic cellulitis. Br J Dermatol 1979 ; 100 : 101-9.
PubMed
3) 矢野正一郎, 金子健彦, 柿沼誉, ほか. Eosinophilic cellulitis (Wells症候群) -1例報告と本邦における40例の統計的検討. 臨皮 1998 ; 52 : 201-11.
 
4) 関口敦之, 小池且弥, 山本明美, ほか. 小児に発症したEosinophilic Cellulitisの1例. 皮膚臨床 2008 ; 50 : 367-9.
 
5) Powell JG, Ramsdell A, Rothman IL. Eosinophilic cellulitis (Wells syndrome) in a pediatric patient : a case report and review of the literature. Cutis 2012 ; 89 : 191-4.
 
6) 佐藤晴香, 安齋眞一, 米田耕造, ほか. Wells症候群における病勢の推移と好酸球上機能分子の相関について. 日皮会誌 2003 ; 113 : 1407-13.
 
7) 大道倫子, 倉持朗, 吉川周佐, ほか. 顕著な水疱形成を伴ったEosinophilic Cellulitisの2例. 皮膚臨床 2001 ; 43 : 619-22.
 
8) 水足久美子, 深水大民, 前川嘉洋, ほか. 骨髄異形成症候群にWells症候群を合併した1例. 臨皮 1993 ; 47 : 975-8.
 
9) 永岡譲, 神人正寿, 土屋知子, ほか. 気管支喘息を合併したWells症候群. 臨皮 2002 ; 56 : 720-2.
 
10) 豊田雅彦, 関太輔, 諸橋正昭. 皮膚症状を伴ったHypereosinophilic syndrome. 皮膚科紀要 1992 ; 87 : 223-39.
 
11) 山本都美, 新井達, 冨田昌宏, ほか. 喘息患者にみられたEosinophilic Cellulitisの1例. 皮膚臨床 2007 ; 49 : 933-6.
 
12) Fujimoto N, Wakabayashi M, Kato T, et al. Wells syndrome associated with Churg-Strauss syndrome. Clin Exp Dermatol 2011 ; 36 : 46-8.
PubMed
13) Lee SH, Roh MR, Jee H, et al. Wells' syndrome associated with Churg-Strauss syndrome. Ann Dermatol 2011 ; 23 : 497-500.
PubMed
14) 田宮紫穂, 川久保洋, 塗木裕子, ほか. Eosinophilic Cellulitisの1例. 皮膚臨床 2001 ; 43 : 1657-60.
 
15) 三井田博, 土屋和夫, 伊藤雅章, ほか. ロキシスロマイシン内服が奏効したWells症候群の1例. 臨皮 2005 ; 59 : 849-52.
 
16) 戸倉新樹. マクロライド. 皮膚アレルギーフロンティア 2007 ; 5 : 51.
Medical*Online

VIII 光線過敏症と考えたとき忘れてはならない症候群

P.98 掲載の参考文献
1) Bloom D. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs. Am J Dis Child 1954 ; 88 : 754-8.
 
2) 石井琢磨. Bloom syndrome. 日本臨牀 2001 (別冊) ; 33 : 281-3.
 
3) Ellis NA, Groden J, Ye TZ, et al. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 1995 ; 83 : 655-66.
PubMed
4) 尾山修一, 向井秀樹, 荒井亮. Bloom症候群. 皮膚病診療 2006 ; 28 : 1467-70.
 
5) German J, Takabe H. Bloom's syndrome. XIV. The disorder in Japan. Clin Genet 1989 ; 35 : 93-110.
 
6) 高木肇, 前田學. Bloom症候群. 日本臨牀 2006 (別冊) ; 38 : 406-9.
 
P.102 掲載の参考文献
1) Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child 1936 ; 11 : 1-8.
PubMed
2) Kraemer KH, Patrons NJ, Schiffmann R, et al. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome : a complex genotype-phenotype relationship. Neuroscience 2007 ; 145 : 1388-96.
 
3) Nance MA, Berry SA. Cockayne syndrome : review of 140 cases. Am J Med Genet 1992 ; 42 : 68-84.
PubMed
4) Weidenheim KM, Dickson DW, Rapin I. Neuropathology of Cockayne syndrome : evidence for impaired development, premature aging, and neurodegeneration. Mech Ageing Dev 2009 ; 130 : 619-36.
PubMed
5) Suzumura H, Arisaka O. Cerebro-oculo-facio-skeletal syndrome. Adv Exp Med Biol 2010 ; 685 : 210-4.
PubMed
6) 森脇真一. 色素性乾皮症・コケイン症候群を確定診断するまでの流れ. 戸倉新樹, 編. 皮膚科診療プラクティス 20. Environmental Dermatology-環境・職業からみた皮膚疾患. 東京 : 文光堂 ; 2007. pp62-9.
 
P.106 掲載の参考文献
1) Larizza L, Roversi G, Volpi L. Rothmund-Thomson syndrome. Orphanet J Rare Dis 2010 ; 5 : 2.
PubMed
2) Kitao S, Shimamoto A, Goto M, et al. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet 1999 ; 22 : 82-4.
 
3) 菅原稔, 野田哲生. ゲノム維持機構の破綻と遺伝性早老症. アンチ・エイジング医学 2005 ; 1 : 189-98.
Medical*Online
4) Wang LL, Gannavarapu A, Kozinetz CA, et al. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst 2003 ; 95 : 669-74.
PubMed
5) Walne AJ, Vulliamy T, Beswick R, et al. Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome. Hum Mol Genet 2010 ; 19 : 4453-61.
 
6) Mehollin-Ray AR, Kozinetz CA, Schlesinger AE, et al. Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. AJR Am J Roentgenol 2008 ; 191 : W62-6.
PubMed
7) Siitonen HA, Sotkasiira J, Biervliet M, et al. The mutation spectrum in RECQL4 diseases. Eur J Hum Genet 2009 ; 17 : 151-8.
PubMed
8) Sznajer Y, Siitonen HA, Roversi G, et al. Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes. Eur J Pediatr 2008 ; 167 : 175-81.
 
9) Siitonen HA, Kopra O, Kaariainen H, et al. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. Hum Mol Genet 2003 ; 12 : 2837-44.
PubMed
10) Murthy J, Babu R, Ramanan PV. Radial, renal and craniofacial anomalies : Baller-Gerold syndrome. Indian J Plast Surg 2008 ; 41 : 76-8.
PubMed
11) Colombo EA, Bazan JF, Negri G, et al. Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia : bioinformatic analysis of the protein and predicted effects of all reported mutations. Orphanet J Rare Dis 2012 ; 7 : 7.
PubMed
12) Mostefai R, Morice-Picard F, Boralevi F, et al. Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet A 2008 ; 146A : 2762-9.
 
13) Arnold AW, Itin PH, Pigors M, et al. Poikiloderma with neutropenia : a novel C16orf57 mutation and clinical diagnostic criteria. Br J Dermatol 2010 ; 163 : 866-9.
PubMed
14) Shchepachev V, Wischnewski H, Missiaglia E, et al. Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA. Cell Rep 2012 ; 2 : 855-65.
PubMed
15) Nishio N, Kojima S. Recent progress in dyskeratosis congenita. Int J Hematol 2010 ; 92 : 419-24.
PubMed
16) Stinco G, Governatori G, Mattighello P, et al. Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome : case report and published work review. J Dermatol 2008 ; 35 : 154-61.
 

IX 魚鱗癬と考えたとき忘れてはならない症候群

P.111 掲載の参考文献
1) Sjogren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders ; a clinical and genetic study. Acta Psychiatr Neurol Scand Suppl 1957 ; 113 ; 1-112.
PubMed
2) Jagell S, Gustavson KH, Holmgren G, et al. Sjogren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study. Clin Genet 1981 ; 19 : 233-56.
 
3) Rizzo WB, Craft DA. Sjogren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol : NAD+ oxidoreductase in cultured fibroblasts. J Clin Invest 1991 ; 88 : 1643-8.
PubMed
4) De Laurenzi V, Rogers GR, Hamrock DJ, et al. Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet 1996 ; 12 : 52-7.
PubMed
5) Judge MR, Lake BD, Smith VV, et al. Deletion of alcohol (hexanol) dehydrogenase activity in the epidermis and jejuna mucosa in Sjogren-Larsson syndrome. J Invest Dermatol 1990 ; 95 : 632-4.
 
6) 高木晴美, 三橋善比古, 原田研, ほか. Alcohol dehydrogenase活性の低下を認めたSjogren-Larsson症候群の1例. 臨皮 1995 ; 49 : 615-7.
 
7) 高山篤子, 落合豊子, 森嶋隆文, ほか. Medium chain triglyceride (トリカプリリン) 内服療法が奏功したと思われるSjogren-Larsson syndrome. 第9回角化症研究会記録集 ; 1994. pp103-6.
 
P.114 掲載の参考文献
1) Rud E. Et Tilfaelde af Infantilisme med Tetani, Epilepsi, Polyneuritis, Ichthyosis og Anaemi of pernicious Type. Hospitalstidende 1927 ; 70 : 525-38.
 
2) Rud E. Et Tilfaelde af Hypogenitalisme (Eunuchoidismus feminus) med partiel Gigantisme og Ichthyosis. Hospitalstidende 1929 ; 72 : 426-33.
 
3) Abe K, Matsuda I, Matsuura N, et al. X-linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings. Clin Genet 1976 ; 9 : 341-5.
PubMed
4) Andria G, Ballabio A, Parenti G, et al. Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'. J Inherit Metab Dis 1984 ; 7 (Suppl 2) : 159-60.
 
5) Franzoni E, Lambertini A, Scanabissi E. Rud syndrome. A case report. Ital J Neurol Sci 1981 ; 2 : 399-401.
PubMed
6) Larbrisseau A, Carpenter S. Rud syndrome : congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy. Neuropediatrics 1982 ; 13 : 95-8.
PubMed
7) Macgillivray RC. The syndrome of Rud. Am J Ment Defic 1954 ; 59 : 67-72.
PubMed
8) Marconi S, Cantalupo G, Marliani F, et al. Rud syndrome with focal cortical dysplasia : a case report. Brain Dev 2011 ; 33 : 683-6.
PubMed
9) Marxmiller J, Trenkle I, Ashwal S. Rud syndrome revisited : ichthyosis, mental retardation, epilepsy and hypogonadism. Dev Med Child Neurol 1985 ; 27 : 335-43.
PubMed
10) Munke M, Kruse K, Goos M, et al. Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature. Eur J Pediatr 1983 ; 141 : 8-13.
PubMed
11) Nissley PS, Thomas GH. The Rud syndrome : ichthyosis, hypogonadism, mental retardation. Birth Defects Orig Artic Ser 1971 ; 7 : 246-7.
PubMed
12) Wright CE. The syndrome of Rud. A case report. Bull Sch Med Univ Md 1961 ; 46 : 22-5.
 
13) Happle R. Rud syndrome does not exist. Eur J Dermatol 2012 ; 22 : 7.
 
14) Traupe H. Ichthyosis and hypogenitalism and hypogonadism : reflections on the so-called Rud's syndrome. In : Traupe H, Melnik B. The Ichthyosis : A Guide to Clinical Diagnosis, Genetic Counseling and Therapy. New York : Springer-Verlag ; 1989. pp91-7.
 
15) Traupe H. Steroid sulfatase (STS) testing in the Rud syndrome reveals two different types. J Invest Dermatol 1981 ; 76 : 429.
 
16) Ballabio A, Zollo M, Carrozzo R, et al. Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. Am J Med Genet 1991 ; 41 : 184-7.
 
17) Ewing JA. The association of oligophrenia and dyskeratoses ; a clinical investigation and an injury into its implication. Am J Ment Defic 1956 ; 60 : 575-81.
 
18) York-Moore ME, Rundle AT. Rud's syndrome. J Ment Defic Res 1962 ; 6 : 108-18.
PubMed
19) Maldonado RR, Tamayo L, Carnevale A. Neuroichthyosis with hypogonadism (Rud's syndrome). Int J Dermatol 1975 ; 14 : 347-52.
PubMed
P.118 掲載の参考文献
1) Conradi E. Vorzeitiges Aufreten von Knoche eigenartigen Verkalkungskern en bei Chondrodystrophia fotalis hypoplatica. Histologische und Rontgenuntersuch ungen. Jahrb Kimderh 1914 ; 80 : 86-97.
 
2) Gilbert EF, Opitz JM, Spranger JW, et al. Chondrodysplasia punctata-rhizomelic form. Pathologic and radiologic studies of three infants. Eur J Pediatr 1976 ; 123 : 89-109.
PubMed
3) Herndon JH Jr, Freeman RG. Chondrodysplasia punctate (Conradi's syndrome). Mod Probl Paediatr 1976 ; 20 : 153-4.
PubMed
4) Spranger J. International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone. Eur J Pediatr 1992 ; 151 : 407-15.
 
5) Derry JM, Gormally E, Means GD, et al. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet 1999 ; 22 : 286-90.
 
6) Braverman N, Lin P, Moebius FF, et al. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat Genet 1999 ; 22 : 291-4.
PubMed
7) Dewan P, Rai A, Gupta N, et al. A rare lethal case of chondrodysplasia punctata with extensive airway involvement. Fetal Pediatr Pathol 2012 ; 31 : 134-9.
 
8) Yajima M, Muroga E, Nomura T, et al. Case of Conradi-Hunermann-Happle syndrome with alopecia : histological examination of affected follicles. J Dermatol 2012 ; 39 : 1059-60.
PubMed
9) 柴田明彦, 八木茂, 長島典安, ほか. Conradi症候群の皮膚症状の経時的観察 : Collodion babyとして初発し尋常性魚鱗癬に移行した1例. 皮膚臨床 1986 ; 28 : 273-8.
 
P.120 掲載の参考文献
1) Sato M, Ishikawa O, Miyachi Y. X-linked dominant chondrodysplasia punctate with decreased dihydroxyacetone phosphate acyltransferase activity. Dermatology 1996 ; 192 : 23-7.
 
P.121 掲載の参考文献
1) Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses : results of the First Ichthyosis Consensus Conference in Soreze 2009. J Am Acad Dermatol 2010 ; 63 : 607-41.
PubMed
1) Srebrnik A, Tur E, Perluk C, et al. Dorfman-Chanarin syndrome. A case report and a review. J Am Acad Dermatol 1987 ; 17 : 801-8.
 
2) Pena-Penabad C, Almagro M, Martinez W, et al. Dorfman-Chanarin syndrome (neutral lipid storage disease) : new clinical features. Br J Dermatol 2001 ; 144 : 430-2.
PubMed
3) Dorfman ML, Hershko C, Eisenberg S, et al. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 1974 ; 110 : 261-6.
PubMed
4) Chanarin I, Patel A, Slavin G, et al. Neutral-lipid storage disease : a new disorder of lipid metabolism. Br Med J 1975 ; 1 : 553-5.
PubMed
5) Lai CH, Chou CY, Ch'ang LY, et al. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Genome Res 2000 ; 10 : 703-13.
PubMed
6) Lefevre C, Jobard F, Caux F, et al. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 2001 ; 69 : 1002-12.
PubMed
7) Lass A, Zimmermann R, Haemmerle G, et al. Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman syndrome. Cell Metab 2006 ; 3 : 309-19.
PubMed
8) Akiyama M, Sawamura D, Nomura Y, et al. Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome. J Invest Dermatol 2003 ; 121 : 1029-34.
PubMed
9) Demerjian M, Crumrine DA, Milstone LM, et al. Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome). J Invest Dermatol 2006 ; 126 : 2032-8.
PubMed
10) Akiyama M, Sakai K, Takayama C, et al. CGI-58 is an alpha/beta hydrolase within lipid transporting lamellar granules of differentiated keratinocytes. Am J Pathol 2008 ; 173 : 1349-60.
PubMed
11) Ujihara M, Nakajima K, Yamamoto M, et al. Epidermal triglyceride levels are correlated with severity of ichthyosis in Dorfman-Chanarin syndrome. J Dermatol Sci 2010 ; 57 : 102-7.
PubMed
12) Uchida Y, Cho Y, Moradian S, et al. Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome. J Invest Dermatol 2010 ; 130 : 2497-9.
 
13) Elias PM, Williams ML. Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion. Arch Dermatol 1985 ; 121 : 1000-8.
PubMed
14) Akiyama M, Sawamura D, Shimizu H. The clinical spectrum of non-bullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol 2003 ; 28 : 235-40.
 
15) Kakourou T, Drogari E, Christomanou H, et al. Neutral lipid storage disease-response to dietary intervention. Arch Dis Child 1997 ; 77 : 184.
PubMed
P.125 掲載の参考文献
1) Netherton EW. A unique case of trichorrhexis nodosa-'bamboo hairs'. Arch Dermatol 1958 ; 78 : 483-7.
 
2) Wilkinson RD, Curtis GH, Hark WA, et al. Netherton's disease : trichorrhexis invaginata (bamboo hair), congenital ichthyosiform erythroderma and the atopic diathesis : a histopathologic study. Arch Dermatol 1964 ; 89 : 46-52.
 
3) Mizuno Y, Suga Y, Muramatsu S, et al. A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene. Br J Dermatol 2005 ; 153 : 661-3.
PubMed
4) Mizuno Y, Suga Y, Haruna K, et al. A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome. Clin Exp Dermatol 2006 ; 31 : 677-80.
PubMed
5) 水野優起, 須賀康, 春名邦隆, ほか. 順天堂大学皮膚科角化症専門外来で経験した小児Netherton症候群4症例の検討. 日皮会誌 2006 ; 116 : 1319-31.
 
6) 須賀康, 水野優起. Netherton (ネザートン) 症候群. 皮膚科セミナリウム 第47回 角化症. 日皮会誌 2009 ; 119 : 301-8.
 
7) Okkerse A, Orange AP, de Laat PC. Comel-Netherton syndrome. Br J Dermatol 1994 ; 131 : 725-6.
 
8) Chavanas S, Bodemer C, Rochat A, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000 ; 25 : 141-2.
PubMed
9) Ishida-Yamamoto A, Deraison C, Nonnart C, et al. LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum. J Invest Dermatol 2005 ; 124 : 360-6.
 
10) Rakowska A, Kowalska-Oledzka E, Slowinska M, et al. Hair shaft videodermoscopy in Netherton syndrome. Pediatr Dermatol 2009 ; 26 : 320-2.
PubMed
11) Ong C, O'Toole EA, Ghali L, et al. LEKTI demonstrable by immunohistochemistry of the skin : a potential diagnostic skin test for Netherton syndrome. Br J Dermatol 2004 ; 151 : 1253-7.
 
12) Komatsu N, Suga Y, Saijoh K, et al. Elevated human tissue kallikrein levels in the stratum corneum and serum of peeling skin syndrome-type B patients suggests an over-desquamation of corneocytes. J Invest Dermatol 2006 ; 126 : 2338-42.
PubMed

X 表皮母斑と考えたとき忘れてはならない症候群

P.128 掲載の参考文献
1) Solomon LM, Fretzin DF, Dewald RL. The epidermal nevus syndrome. Arch Dermatol 1968 ; 97 : 273-85.
PubMed
2) Happle R. How many epidermal nevus syndromes exist? J Am Acad Dermatol 1991 ; 25 : 550-6.
PubMed
3) Happle R. The group of epidermal nevus syndromes. Part I. Well defined phenotypes. J Am Acad Dermatol 2010 ; 63 : 1-22.
 
4) Happle R. The group of epidermal nevus syndromes. Part II. Less defined phenotypes. J Am Acad Dermatol 2010 ; 63 : 25-30.
 
5) Ousager LB, Bygum A, Hafner C. Identification of a novel S249C FGFR3 mutation in a keratinocytic epidermal naevus syndrome. Br J Dermatol 2012 ; 167 : 202-3.
 
6) 上出康二. 表皮・付属器の母斑. MB Derma 2007 ; 134 : 17-23.
 
7) Lindhurst MJ, Sapp JC, Teer JK, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011 ; 365 : 611-9.
PubMed
8) Bornholdt D, Konig A, Happle R, et al. Mutational spectrum of NSDHL in CHILD syndrome. J Med Genet 2005 ; 42 : e17.
PubMed
P.132 掲載の参考文献
1) Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti : a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002 ; 47 : 169-87.
PubMed
2) Molho-Pessach V, Schaffer JV. Blaschko lines and other patterns of cutaneous mosaicism. Clin Dermatol 2011 ; 29 : 205-25.
PubMed

XI 掌蹠角化症と考えたとき忘れてはならない症候群

P.134 掲載の参考文献
1) Cury VF, Gomez RS, Costa JE, et al. A homozygous cathepsin C mutation associated with Haim-Munk syndrome. Br J Dermatol 2005 ; 152 : 353-6.
PubMed
1) 野村和夫. Papillon-Lefevre syndrome. 玉置邦彦, ほか編. 最新皮膚科学大系 特別巻 2. 皮膚科症候群. 東京 : 中山書店 ; 2004. pp258-9.
 
2) Toomes C, James J, Wood AJ, et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet 1999 ; 23 : 421-4.
 
3) 野村和夫, 菊池直子, 鳴海博美, ほか. Cathepsin C遺伝子に変異を認めたPapillon-Lefevre症候群の同胞例. 第15回角化症研究会記録集. 2001. pp40-2.
 
4) 角館直樹, 福島千之, 小野芳男, ほか. Papillon-Lefevre症候群と診断した姉弟例. 日本歯周病学会会誌 2007 ; 49 : 239-49.
 
5) Ullbro C, Crossner C-G, Nederfors T, et al. Dermatologic and oral findings in a cohort of 47 patients with Papillon-Lefevre syndrome. J Am Acad Dermatol 2003 ; 48 : 345-51.
 
6) Nakajima K, Nakano H, Takiyoshi N, et al. Papillon-Lefevre syndrome and malignant melanoma. A high incidence of melanoma development in Japanese palmoplantar keratoderma. Dermatology 2008 ; 217 : 58-62.
PubMed
7) Nakano A, Nomura K, Nakano H, et al. Papillon-Lefevre syndrome : mutations and polymorphisms in the cathepsin C gene. J Invest Dermatol 2001 ; 116 : 339-43.
 
8) 加藤泰三, 三浦隆. 歯周病を伴う掌蹠角化症-Papillon-Lefevre症候群の1例. 皮膚臨床 1973 ; 15 : 205-8.
 
9) Bouadjar B, Benmazouzia S, Prud'homme JF, et al. Clinical and genetic studies of 3 large, consanguineous Algerian families with Mal de Meleda. Arch Dermatol 2000 ; 136 : 1247-52.
PubMed
10) Perry HO, Su WP. Olmsted syndrome. Semin Dermatol 1995 ; 14 : 145-51.
PubMed
11) 川村愛, 落合豊子. Papillon-Lefevre症候群-29年間経過観察した症例. Visual Dermatology 2006 ; 5 : 535-7.
 
P.139 掲載の参考文献
1) Vohwinkel KH. Keratoma hereditarium mutilans. Arch Derm Syph 1929 ; 158 : 354-64.
 
2) Maestrini E, Korge BP, Ocana-Sierra J, et al. A missense mutation in connexin 26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet 1999 ; 8 : 1237-43.
PubMed
3) Iossa S, Marciano E, Franze A. GJB2 gene mutations in syndromic skin diseases with sensorineural hearing loss. Curr Genomics 2011 ; 12 : 475-85.
PubMed
4) Uyguner O, Turkel T, Baykal C, et al. The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. Clin Genet 2002 ; 62 : 306-9.
 
5) Nemoto-Hasebe I, Akiyama M, Kudo S, et al. Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss. Br J Dermatol 2009 ; 161 : 452-5.
PubMed
6) Sevior KB, Hatamochi A, Stewart IA, et al. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet 1998 ; 75 : 179-85.
PubMed
7) Brown CW, Levy ML, Flaitz CM, et al. A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness. J Invest Dermatol 2003 ; 121 : 1221-3.
 
8) Atabay K, Yavuzer R, Latifoglu O, et al. Keratoderma hereditarium mutilans (Vohwinkel syndrome) : an unsolved surgical mystery. Plast Reconstr Surg 2001 ; 108 : 1276-80.
PubMed
P.143 掲載の参考文献
1) Skinner BA, Greist MC, Norins AL. The keratitis, ichthyosis, and deafness (KID) syndrome. Arch Dermatol 1981 ; 117 : 285-9.
PubMed
2) Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, et al. Keratitis, ichthyosis, and deafness (KID syndrome) : review of the literature and proposal of a new terminology. Pediatr Dermatol 1996 ; 13 : 105-13.
PubMed
3) van Steensel MA, van Geel M, Nahuys W, et al. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. J Invest Dermatol 2002 ; 118 : 724-7.
 
4) Richard G, Rouan F, Willoughby CE, et al. Mis-sense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet 2002 ; 70 : 1341-8.
 
5) Yotsumoto S, Hashiguchi T, Chen X, et al. Novel mutation in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. Br J Dermatol 2003 ; 148 : 649-53.
PubMed
6) Jan AY, Amin S, Richard G, et al. Genetic heterogeneity of KID syndrome : identification of a Cx30 (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol 2004 ; 122 : 1108-13.
 
7) Conrad LA, Marques SA, Lastoria JC, et al. Keratitis-ichthyosis-deafness (KID) syndrome with squamous cell carcinoma. Int J Dermatol 2007 ; 46 : 403-6.
 
8) Bergman R, Mercer A, Indelman M, et al. KID syndrome : histological, immunological and molecular analysis of precancerous and cancerous skin lesions. Br J Dermatol 2012 ; 166 : 455-7.
 
9) Carey AB, Burke WA, Park HM. Malignant fibrous histiocytoma in keratosis, ichthyosis, and deafness syndrome. J Am Acad Dermatol 1988 ; 19 : 1124-6.
 
10) Nyquist GG, Mumm C, Grau R, et al. Malignant proliferating pilar tumors arising in KID syndrome : a report of two patients. Am J Med Genet A 2007 ; 143 : 734-41.
 
11) Werchau S, Toberer F, Enk A, et al. Keratitis-ichthyosis-deafness syndrome : response to alitretinoin and review of literature. Arch Dermatol 2011 ; 147 : 993-5.
PubMed
P.147 掲載の参考文献
1) Bazex A, Griffiths A. Acrokeratosis paraneoplastica-a new cutaneous marker of malignancy. Br J Dermatol 1980 ; 102 : 301-6.
 
2) Karabulut AA, Sahin S, Sahin M, et al. Paraneoplastic acrokeratosis of Bazex (Bazex's syndrome) : report of a female case associated with cholangiocarcinoma and review of the published work. J Dermatol 2006 ; 33 : 850-4.
 
3) 細川洋一郎, 中井浩三, 石川絵美子, ほか. Bazex症候群の1例. 皮膚臨床 2011 ; 53 : 1281-6.
 
4) Pecora AL, Landsman L, Imgrund SP, et al. Acrokeratosis paraneoplastica (Bazex' syndrome). Report of a case and review of the literature. Arch Dermatol 1983 ; 119 : 820-6.
PubMed
5) 南光弘子, 小林容子, 増田幸蔵. 掌せきの皮膚病Bazex症候群 (acrokeratosis paraneoplastica). 皮膚病診療 1994 ; 16 : 1137-41.
 
6) Poligone B, Christensen SR, Lazova R, et al. Bazex syndrome (acrokeratosis paraneoplastica). Lancet 2007 ; 369 : 530.
PubMed
7) 渡部秀憲, 木村聡子, 保坂恵理, ほか. 前立腺癌を合併したAcrokeratosis Paraneoplastica (Bazex症候群)の1例. 皮膚臨床 2003 ; 45 : 163-5.
 

XII 掌蹠膿疱症と考えたとき忘れてはならない症候群

P.150 掲載の参考文献
1) Chamot AM, Benhamou CL, Kahn MF, et al. Acne-pustulosis-hyperostosis-osteitis syndrome. Results of a national survey. 85 cases. Rev Rheum Mal Osteoartic 1987 ; 54 : 187-96.
 
2) 大久保ゆかり. 経過中注意すべき合併症 : 2) 膿疱性関節炎, 胸鎖関節炎 (SAPHO症候群)の臨床と診断. Visual Dermatology 2012 ; 11 : 1030-1.
 
3) Govoni M, Colina M, Massara A, et al. SAPHO syndrome and infections. Autoimmun Rev 2009 ; 8 : 256-9.
PubMed
4) 照井正. 掌蹠膿疱症とSAPHO症候群-病態と治療の進歩. 日臨皮会誌 2012 ; 29 : 680-9.
 
5) Magrey M, Khan MA. New insights into synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. Curr Rheum Rep 2009 ; 11 : 329-33.
 
6) 葉山惟大. 膿疱性骨関節炎 (PAO) : シクロスポリン. Visual Dermatology 2012 ; 11 : 1084-5.
 
7) 小林里実. 膿疱性骨関節炎, 胸鎖関節炎 (SAPHO症候群)の治療 : ビスホスホネートを含む. Visual Dermatology 2012 ; 11 : 1082-3.
 
8) 小宮根真弓, 玉置邦彦. 掌蹠膿疱症に対するロキシスロマイシンの有効性. 皮膚の科学 2010 ; 9 (Suppl 14) : 21-4.
 

XIII 面皰と考えたとき忘れてはならない症候群

P.155 掲載の参考文献
1) Favre M, Racouchot J. L'elasteidose cutanee nodulaire a kystes et a comedons. Ann Dermatol Syphiligr (Paris) 1951 ; 78 : 681-702.
PubMed
2) Agius JR. Grouped periorbital comedones. Br J Dermatol 1964 ; 76 : 158-64.
PubMed
3) Hedelund L, Wulf HC. Favre-Racouchot disease provoked by UV-A1 and UV-B exposure. Arch Dermatol 2004 ; 140 : 129-31.
PubMed
4) 赤坂俊英, 今村優子, 佐々木博. 腫瘤状を呈し嚢腫がみられたFavre-Racouchot症候群. 皮膚臨床 1993 ; 35 : 1941-4.
 
5) Breit S, Flaig MJ, Wolff H, et al. Favre-Racouchot-like disease after radiation therapy. J Am Acad Dermatol 2003 ; 49 : 117-9.
PubMed
6) Keough GC, Laws RA, Elston DM, et al. Favre-Racouchot syndrome : a case for smokers' comedones. Arch Dermatol 1997 ; 133 : 796-7.
PubMed
7) 石川牧子, 江川裕美, 十一英子, ほか. 多房性嚢腫を呈したFavre-Racouchot症候群の1例. 皮膚臨床 2009 ; 51 : 385-8.
 
8) Robinson JK, Garden JM, Paller AS, et al. Favre Racouchot syndrome. Arch Dermatol 1992 ; 128 : 615-6.
 
9) 阿部浩之, 薮田潤子, 藤本典宏, ほか. 結節状Favre-Racouchot症候群の1例. 皮膚臨床 2007 ; 49 : 868-9.
 
10) 竹中祐子, 池田美智子, 南光弘子. Favre-Racouchot症候群-タカルシトール軟膏外用療法有効例. 皮膚病診療 2005 ; 27 : 913-6.
 
11) Rallis E, Karanikola E, Verros C. Successful treatment of Favre-Racouchot disease with 0.05 % tazarotene gel. Arch Dermatol 2007 ; 143 : 810-2.
 
12) Patterson WM, Fox MD, Schwartz RA. Favre-Racouchot disease. Int J Dermatol 2004 ; 43 : 167-9.
PubMed
13) Movilia L, Campolmit P, Santoro G, et al. Combined treatment of Favre-Racouchot syndrome with a superpulsed carbon dioxide laser : report of 50 cases. Dermatol Ther 2010 ; 23 : S4-6.
 
14) 金子高英, 中島康爾, 中野創, ほか. Favre-Racouchot症候群の嚢腫壁から生じた基底細胞癌の一例. 西日皮膚 2010 ; 72 : 298.
 

XIV 白斑と考えたとき忘れてはならない症候群

P.159 掲載の参考文献
1) Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 1951 ; 3 : 195-253.
PubMed
2) 占部和敬. Waardenburg症候群. 玉置邦彦, ほか編. 最新皮膚科学大系 8. 色素異常症. 東京 : 中山書店 ; 2002. pp155-9.
 
3) Tomita Y, Suzuki T. Genetics of pigmentary disorders. Am J Med Genet 2004 ; 131C : 75-81.
PubMed
4) 橘正芳. 感覚受容へのメラノサイトの関与-聴覚系での役割. 松本二郎, ほか編. 色素細胞. 東京 : 慶応義塾大学出版会 ; 2001. pp223-35.
 
5) 川口新暉, 河陽子, 川口早苗, ほか. Waardenburg症候群の母子例. 日皮会誌 1987 ; 97 : 437-44.
 
6) 坂下さなえ, 橋爪鈴男, 久志本常人, ほか. 後天性に白斑, 白毛を伴ったWaardenburg症候群の1例. 皮膚臨床 1996 ; 38 : 657-9.
 
7) Pardono E, van Bever Y, van den Ende J, et al. Waardenburg syndrome : clinical differentiation between types I and II. Am J Med Genet A 2003 ; 117A : 223-35.
PubMed
8) 清水健司. Waardenburg症候群 I型, II型, III型. 小児診療 2009 ; 72 (増刊) : 96.
 
9) 小崎里華. 染色体異常, 先天異常 Waardenburg症候群. 小児内科 2009 ; 41 (増刊) : 228-30.
 
10) Monma F, Hozumi Y, Kawaguchi M, et al. A novel MITF splice site mutation in a family with Waardenburg syndrome. J Dermatol Sci 2008 ; 52 : 64-6.
 
11) Tachibana M, Perez-Jurado LA, Nakayama A, et al. Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3q14.1-p12.3. Hum Mol Genet 1994 ; 3 : 553-7.
 
12) 吉田尚弘, 國貞隆弘. 脊椎動物における色素細胞の発生-神経冠からメラノサイトが出現するメカニズム. 松本二郎, ほか編. 色素細胞. 東京 : 慶応義塾大学出版会 ; 2001. pp11-38.
 
13) Edery P, Attie T, Amiel J, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 1996 ; 12 : 442-4.
PubMed
14) Puffenberger EG, Hosoda K, Washington SS, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994 ; 79 : 1257-66.
PubMed
15) Touraine RL, Attie-Bitach T, Manceau E, et al. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet 2000 ; 66 : 1496-503.
 
16) Oshimo T, Fukai K, Abe Y, et al. Prediatic case report : clinical profile of with PCWH with p.Q377X nonsense mutation in the SOX10 gene. J Dermatol 2012 ; 39 : 1022-5.
 
17) Bondurand N, Pingault V, Goerich DE, et al. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet 2000 ; 9 : 1907-17.
PubMed
18) Farrer LA, Grundfast KM, Amos J, et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2 : first report of the WS consortium. Am J Hum Genet 1992 ; 50 : 902-13.
PubMed
19) Arias S, Mota M. Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum. J Genet Hum 1978 ; 26 : 103-31.
PubMed
20) Farrer LA, Arnos KS, Asher JH Jr, et al. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet 1994 ; 55 : 728-37.
PubMed
21) Smith SD, Kelley PM, Kenyon JB, et al. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet 2000 ; 37 : 446-8.
PubMed
P.163 掲載の参考文献
1) 堀川達弥, 長井宏. Vogt-小柳-原田症候群. 玉置邦彦, ほか編. 最新皮膚科学大系 8. 色素異常症. 東京 : 中山書店 ; 2002. pp187-8.
 
2) Pan D, Hirose T. Vogt-Koyanagi-Harada syndrome : review of clinical features. Semin Ophthalmol 2011 ; 26 : 312-5.
PubMed
3) Ohguro N, Sonoda K, Mochizuki M, et al. The 2009 prospective multi-center epidemiologic survey of uveitis in Japan. Jpn J Ophthalmol 2012 ; 56 : 432-5.
PubMed
4) Moorthy RS, Inomata H, Rao NA. Vogt-Koyanagi-Harada syndrome. Surv Ophthalmol 1995 ; 39 : 265-92.
PubMed
5) Yamaki K, Hara K, Sakuragi S, et al. Application of revised diagnostic criteria for Vogt-Koyanagi-Harada disease in Japanese patients. Jpn J Ophthalmol 2005 ; 49 : 143-8.
PubMed
6) 川崎恭子, 眞鳥繁隆, 上里博, ほか. Vogt-小柳-原田症候群の小児例. 西日皮膚 2008 ; 70 : 274-8.
 
7) Concha del Rio LE, Arellances-Gracia L. Vogt-Koyanagi-Harada disease in the developing world. Int Ophthalmol Clin 2010 ; 50 : 189-99.
 
8) Shindo Y, Inoko H, Yamamoto T, et al. HLA-DRB1 typing of Vogt-Koyanagi-Harada's disease by PCR-RFLP and the strong association with DRB1*0405 and DRB1*0410. Br J Ophthalmol 1994 ; 78 : 223-6.
PubMed
9) Rao NA, Gupta A, Read RW. Frequency of distinguishing clinical features in Vogt-Koyanagi-Harada disease. Ophthalmology 2010 ; 117 : 591-9.
PubMed
10) 松谷紫, 武藤正彦, 麻上千鳥, ほか. 汎発性の脱毛, 白斑ならびに紅斑を呈したVogt-小柳-原田病不全型の1例. 日皮会誌 1994 ; 104 : 571-7.
 
11) 阿座上和子, 金蔵拓郎, 神崎保, ほか. 脱毛症を契機として診断されたVogt-Koyanagi-Harada Syndrome. 西日皮膚 2006 ; 68 : 28-31.
 
12) Read RW, Holland GN, Rao NA, et al. Revised diagnostic criteria for Vogt-Koyanagi-Harada disease : report of an international committee on nomenclature. Am J Ophthalmol 2001 ; 131 : 647-52.
PubMed
13) 井上裕悦, 大西善博, 石橋明, ほか. 白斑が先行したVogt・小柳・原田病. 皮膚臨床 2000 ; 42 : 214-5.
 
14) 内山真樹, 三橋善比古, 坪井良治, ほか. Vogt-Koyanagi-Harada病を合併した尋常性乾癬. 皮膚病診療 2010 ; 32 : 959-62.
 
15) Khopkar U, Doshi BR, Dongre AM, et al. A study of clinicopathologic profile of 15 cases of hypopigmented mycosis fungoides. Indian J Dermatol Venereol Leprol 2011 ; 77 : 167-73.
PubMed
16) Bordaberry MF. Vogt-Koyanagi-Harada disease : diagnosis and treatments update. Curr Opin Ophthalmol 2010 ; 21 : 430-5.
PubMed
17) Abu El-Asrar AM, Hemachandran S, Al-Muammar AM, et al. The outcomes of mycophenolate mofetil therapy combined with systemic corticosteroids in acute uveitis associated with Vogt-Koyanagi-Harada disease. Acta Ophthalmol 2012 ; 90 : e603-8.
PubMed
18) Park HS, Nan KY, Kim JY. Intravitreal bevacizumab injection for persistent serous retinal detachment associated with Vogt-Koyanagi-Harada disease. Graefes Arch Clin Exp Ophthalmol 2011 ; 249 : 133-6.
 
19) 早川宏一, 後町清子, 櫻木章三, ほか. 原田病の脱毛に対してステロイドの外用剤による局所療法を行った症例. 臨眼 2003 ; 57 : 545-8.
 
20) Chi H, Furue M, Ishibashi Y. Vogt-Koyanagi-Harada's syndrome associated with Hashimoto's thyroiditis. J Dermatol 1994 ; 21 : 683-6.
PubMed
21) 島千春, 春田亘史, 田野保雄, ほか. ステロイドパルス療法を行った原田病患者の治療成績の検討. あたらしい眼科 2008 ; 25 : 851-4.
Medical*Online
22) Miyanaga M, Kawaguchi T, Shimizu K, et al. Influence of early cerebrospinal fluid-guided diagnosis and early high-dose corticosteroid therapy on ocular outcomes of Vogt-Koyanagi-Harada disease. Int Ophthalmol 2007 ; 27 : 183-8.
 
23) 田内芳仁, 三村康男, 湯浅武之助, ほか. 原田病の遷延例に関する統計学的観察. 臨眼 1989 ; 43 : 129-32.
 
24) Keino H, Goto H, Mori H, et al. Association between severity of inflammation in CNS and development of sunset glow fundus in Vogt-Koyanagi-Harada disease. Am J Ophthalmol 2006 ; 141 : 1140-1.
 

XV 白皮症と考えたとき忘れてはならない症候群

P.169 掲載の参考文献
1) Cullinane AR, Curry JA, Golas G, et al. A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. Pigment Cell Melanoma Res 2012 ; 25 : 584-91.
 
1) 鈴木民夫. 最近話題の皮膚疾患 Hermansky-Pudlak syndrome. 臨皮 2006 ; 60 : 23-6.
 
2) 大磯直毅. Hermansky-Pudlak syndromeの最新の知見 Hermansky-Pudlak syndromeの遺伝子群-ヒトと動物モデルの比較による新たな展開. 西日皮膚 2006 ; 68 : 3-10.
 
3) 大磯直毅. Hermansky-Pudlak syndromeの最新の知見 Hermansky-Pudlak syndrome関連蛋白質群-膜輸送とメラノソーム生合成に関して. 西日皮膚 2006 ; 68 : 129-37.
 
4) Oh J, Bailin T, Fukai K, et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 1996 ; 14 : 300-6.
PubMed
5) Dell'Angelica EC, Shotelersuk V, Aguilar RC, et al. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell 1999 ; 3 : 11-21.
PubMed
6) Anikster Y, Huizing M, White J, et al. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 2001 ; 28 : 376-80.
 
7) Suzuki T, Li W, Zhang Q, et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 2002 ; 30 : 321-4.
PubMed
8) Zhang Q, Zhao B, Li W, et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 2003 ; 33 : 145-53.
PubMed
9) Li W, Zhang Q, Oiso N, et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 2003 ; 35 : 84-9.
PubMed
10) Morgan NV, Pasha S, Johnson CA, et al. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet 2006 ; 78 : 160-6.
PubMed
11) Cullinane AR, Curry JA, Carmona-Rivera C, et al. A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet 2011 ; 88 : 778-87.
PubMed
12) Ito S, Suzuki T, Inagaki K, et al. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol 2005 ; 125 : 715-20.
PubMed
13) Suzuki T, Oiso N, Gautam R, et al. The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation. Proc Natl Acad Sci U S A 2003 ; 100 : 1146-50.
PubMed
14) Oiso N, Riddle SR, Serikawa T, et al. The rat Ruby (R) locus is Rab38 : identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain. Mamm Genome 2004 ; 15 : 307-14.
 
15) Natsuga K, Akiyama M, Shimizu T, et al. Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1. J Invest Dermatol 2005 ; 125 : 154-8.
PubMed
16) 鈴木民夫, 金田眞理, 種村篤, ほか. 尋常性白斑診療ガイドライン. 日皮会誌 2012 ; 122 : 1725-40.
 
17) Lohse J, Gehrisch S, Tauer JT, et al. Therapy refractory menorrhagia as first manifestation of Hermansky-Pudlak syndrome. Hamostaseologie 2011 ; 31 (Suppl 1) : S61-3.
 
18) O'Brien K, Troendle J, Gochuico BR, et al. Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab 2011 ; 103 : 128-34.
PubMed
19) Grucela AL, Patel P, Goldstein E, et al. Granulomatous enterocolitis associated with Hermansky-Pudlak syndrome. Am J Gastroenterol 2006 ; 101 : 2090-5.
PubMed
P.174 掲載の参考文献
1) Nagle DL, Karim MA, Woolf EA, et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 1996 ; 14 : 307-11.
PubMed
2) Karim MA, Suzuki K, Fukai K, et al. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet 2002 ; 108 : 16-22.
PubMed
3) Fukai K, Oh J, Karim MA, et al. Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am J Hum Genet 1996 ; 59 : 620-4.
 
4) Paller AS, Mancini AJ. Silvery hair syndromes. In : Hurwitz Clinical Pediatric Dermatology-A Textbook of Skin Disorders of Childhood and Adolescence. 3rd ed. Philadelphia : Elsevier Saunders ; 2006. pp272-3.
 

XVI 皮膚萎縮と考えたとき忘れてはならない症候群

P.178 掲載の参考文献
1) Yu CE, Oshima J, Fu YH, et al. Positional cloning of the Werner's syndrome gene. Science 1996 ; 272 : 258-62.
PubMed
2) Matsumoto T, Imamura O, Yamabe Y, et al. Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure : genetic epidemiology in the Japanese population. Hum Genet 1997 ; 100 : 123-30.
PubMed
3) 横手幸太郎, 五十嵐雅彦, 森聖二郎, ほか. ウェルナー症候群の診断・診療ガイドライン 2012年版. 2012. http://www.m.chiba-u.jp/class/clin-cellbiol/werner/pdf/guideline.pdf
 
P.182 掲載の参考文献
1) Hennekam RC. Hutchinson-Gilford progeria syndrome : review of the phenotype. Am J Med Genet A 2006 ; 140 : 2603-24.
PubMed
2) DeBusk FL. The Hutchinson-Gilford progria syndrome. Report of 4 cases and review of the literature. J Pediatr 1972 ; 80 : 697-724.
 
3) Eriksson M, Brown WT, Gordon LB, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003 ; 423 : 293-8.
PubMed
4) Dechat T, Shimi T, Adam SA, et al. Alterations in mitosis and cell cycle progression caused by a mutant lamin A known to accelerate human aging. Proc Natl Acad Sci U S A 2007 ; 104 : 4955-60.
PubMed
5) Liu B, Wang J, Chan KM, et al. Genomic instability in laminopathy-based premature aging. Nat Med 2005 ; 11 : 780-5.
 
6) Schreiber KH, Kennedy BK. When lamins go bad : nuclear structure and disease. Cell 2013 ; 152 : 1365-75.
PubMed
7) Butin-Israeli V, Adam SA, Goldman AE, et al. Nuclear lamin functions and disease. Trends Genet 2012 ; 28 : 464-71.
PubMed
8) Dubinska-Magiera M, Zaremba-Czogalla M, Rzepecki R. Muscle development, regeneration and laminopathies : how lamins or lamina-associated proteins can contribute to muscle development, regeneration and disease. Cell Mol Life Sci 2013 ; 70 : 2713-41.
PubMed
9) Liu GH, Barkho BZ, Ruiz S, et al. Recapitulation of premature aging with iPSCs from Hutchinson-Gilford progeria syndrome. Nature 2011 ; 472 : 221-5.
PubMed
10) Hutchinson J. Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Med Chir Trans 1886 ; 69 : 473-7.
 
11) Gilford H. On a condition of mixed premature and immature development. Med Chir Trans 1897 ; LXXX : 17-45, PLATE. V-XI.
 
12) Kane MS, Lindsay ME, Judge DP, et al. LMNA-associated cardiocutaneous progeria : an inherited autosomal dominant premature aging syndrome with late onset. Am J Med Genet A 2013 ; 161 : 1599-611.
 
13) Arancio W. A bioinformatics analysis of Lamin-A regulatory network ; a perspective on epigenetic involvement in Hutchinson-Gilford syndrome. Rejuvenation Research 2012 ; 15 : 123-7.
PubMed
14) Hayflick L, Moorhead PS. The serial cultivation of human diploid cell strains. Exp Cell Res 1961 ; 25 : 585-621.
PubMed
15) Baker DJ, Wijshake T, Tchkonia T, et al. Clearance of p16Ink4a -positive senescent cells delays aging-associated disorders. Nature 2011 ; 479 : 232-6.
PubMed
16) Naylor RM, Baker DJ, van Deursen JM. Senescent cells : a novel therapeutic target for aging and age-related diseases. Clin Pharmacol Ther 2013 ; 93 : 105-16.
 
17) Tchkonia T, Zhu Y, van Deursen J, et al. Cellular senescence and the senescent secretory phenotype : therapeutic opportunities. J Clin Invest 2013 ; 123 : 966-72.
PubMed
18) Cabanillas R, Cadinanos J, Villameytide JAF, et al. Nestor-Guillermo progeria syndrome : a novel premature aging condition with early onset and chronic development caused by BANF1 mutations. Am J Med Genet A 2011 ; 155A : 2617-25.
PubMed
19) Merideth MA, Gordon LB, Clauss S, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med 2008 ; 358 : 592-604.
PubMed
20) Zhavoronkov A, Smit-McBride Z, Guinan KJ, et al. Potential therapeutic approaches for modulating expression and accumulation of defective lamina in laminopathies and age-related diseases. J Mol Med (Berl) 2012 ; 90 : 1361-89.
PubMed
21) Varela I, Pereira S, Ugalde AP, et al. Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. Nat Med 2008 ; 14 : 767-72.
 
22) Krishnan V, Chow MZ, Wang Z, et al. Histone H4 lysine 16 hypoacetylation is associated with defective DNA repair and premature senescence in Zmpste 24-deficient mice. Proc Natl Acad Sci U S A 2011 ; 108 : 12325-330.
 
23) Verstraeten VLRM, Peckham LA, Olive M, et al. Protein farnesylation inhibitors cause donut-shaped cell nuclei attributable to a centrosome separation defect. Proc Natl Acad Sci U S A 2011 ; 108 : 4997-5002.
PubMed
24) Gordon LB, Kleinman ME, Miller DT, et al. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A 2012 ; 109 : 16666-71.
PubMed
25) Johnson TE. Cell biology. Rapid aging rescue? Science 2013 ; 340 : 1299-300.
PubMed
26) Ghosh S, Liu B, Zhou Z. Resveratrol activates SIRT1 in a lamin A-dependent manner. Cell Cycle 2013 ; 12 : 872-6.
 
27) Liu B, Ghosh S, Yang X, et al. Resveratrol rescues SIRT1-dependent adult stem cell decline and alleviates progeroid features in laminopathy-based progeria. Cell Metab 2012 ; 16 : 738-50.
PubMed
P.190 掲載の参考文献
1) Shimizu K, Okamoto N, Miyake N, et al. Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome : observation of two additional patients and comprehensive review of 20 reported patients. Am J Med Genet A 2011 ; 155A : 1949-58.
PubMed
1) 新海浤. エーラスダンロス症候群. 皮膚臨床 1997 ; 39 : 1081-5.
 
2) Beighton P, De Paepe A, Steinmann B, et al. Ehlers-Danlos syndrome : revised nosology, Villefranche, 1997. Am J Med Genet 1998 ; 77 : 31-7.
PubMed
3) Bicca Ede B, Almeida FB, Pinto GM, et al. Classical Ehlers-Danlos syndrome : classical, histological and ultrastructural aspects. An Bras Dermatol 2011 ; 86 (4 Suppl 1) : S164-7.
 
4) 峯垣裕介, 谷岡未樹, 荒木絵里, ほか. エーラスダンロス症候群古典型の3例-その診断とQOLの問題点について. 日皮会誌 2008 ; 118 : 1503-9.
 
5) 三原典, 石井文人, 安元慎一郎, ほか. 軽症型Ehlers-Danlos症候群. 皮膚病診療 2004 ; 26 : 1419-22.
 
6) Berglund B, Nordstrom G, Hagberg C, et al. Foot pain and disability in individuals with Ehlers-Danlos syndrome (EDS) : impact on daily life activities. Disabil Rihabil 2005 ; 27 : 164-9.
PubMed
P.194 掲載の参考文献
1) 佐野榮春, 新海浤. Marfan症候群. 久木田淳, ほか編. 現代皮膚科学大系 19A. 代謝・内分泌異常症 I. 東京 : 中山書店 ; 1981. pp76-9.
 
1) Lloyd RI. Arachnodactyly (Dystrophia mesodermalis congenita, typus Marfans, Marfan's syndrome, Dolichostenomelie). Trans Am Opthalmol Soc 1934 ; 32 : 361-8.
 
2) Godfrey M, Menashe V, Weleber RG, et al. Cosegregation of elastin-associated microfibrillar abnormalities with the Mafran phenotype in families. Am J Hum Genet 1990 ; 46 : 652-60.
PubMed
2) 岡村理栄子. Marfan's syndrome. 福代良一, ほか編. 皮膚科診断治療大系 3. 血管炎, 紫斑症, 薬疹, 血行障害・壊疽, 結合組織・脂肪組織疾患. 東京 : 講談社 ; 1985. p115.
 
3) 小林孝志. 線維成分異常. 玉置邦彦, ほか編. 最新皮膚科学大系 10. 内分泌・代謝異常症 脂肪組織疾患 形成異常症 異物沈着症. 東京 : 中山書店 ; 2003. pp2-13.
 
3) 新海浤. 遺伝性結合組織疾患. 玉置邦彦, ほか編. 最新皮膚科学大系 10. 内分泌・代謝異常症 脂肪組織疾患 形成異常症 異物沈着症. 東京 : 中山書店 ; 2003. pp195-204.
 
4) Munger JS, Sheppard D. Cross talk among TGF-β signaling pathways, integrins, and the extracellular matrix. In : Hynes RO, et al, editors. Additional Perspectives on Extracellular Matrix Biology. Woodbury : Cold Spring Harbor Laboratory Press ; 2012. pp1-17.
 
4) 土田哲也. Marfan's syndrome. 玉置邦彦, ほか編. 最新皮膚科学大系 特別巻 2. 皮膚科症候群. 東京 : 中山書店 ; 2004. p217.
 
5) Berteretche MV, Hornebeck W, Pellat B, et al. Histomorphometric parameters and susceptibility to neutrophil elastase degradation of skin elastic fibers from healthy individuals and patients with Marfan syndrome, Ehlers-Danlos type IV, and pseudoxanthoma elasticum. Br J Dermatol 1995 ; 133 : 836-41.
PubMed
5) Burrows NP, Lovell CR. Marfan's syndrome. In : Burns T, et al. editors. Rook's Textbook of Dermatology. Oxford : John Wiley & Sons ; 2010. pp45.30-1.
 
6) 新海浤. 遺伝性結合組織疾患. 玉置邦彦, ほか編. 最新皮膚科学大系 10. 内分泌・代謝異常症 脂肪組織疾患 形成異常症 異物沈着症. 東京 : 中山書店 ; 2003. pp195-204.
 
7) Pinkus H, Keech MK, Mehregan AH. Histopathology of striae distensae, with special reference to striae and wound healing in the Marfan syndrome. J Invest Dermatol 1966 ; 46 : 283-92.
PubMed
8) 岡村理栄子. マルファン症候群. 福代良一, ほか編. 皮膚科診断治療大系 3. 血管炎 紫斑症 薬疹 血行障害・壊疽 結合組織・脂肪組織疾患 (膠原病). 東京 : 講談社 ; 1985. p115.
 
9) 小林孝志. 紫斑 (皮内および皮下出血). 大田健, ほか編. 臨床診断ホップ ステップ ジャンプ 53症候へのアプローチ. 東京 : 南江堂 ; 2011. pp437-46.
 
10) Tsuji T. Marfan syndrome : demonstration of abnormal elastic fibers in skin. J Cutan Pathol 1986 ; 13 : 144-53.
PubMed
11) Kobayasi T. Dermal elastic fibers in the inherited hypermobile disorders. J Dermatol Sci 2006 ; 41 : 175-85.
PubMed
12) Summers KM, Nataatmadja M, Xu D, et al. Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome. Am J Med Genet A 2005 ; 139 : 2-8.
PubMed
13) 畑隆一郎. コラーゲン-その機能と代謝. 蛋白質・核酸・酵素 1986 ; 31 : 29-52.
 
14) De Paepe A, Devereux RB, Dietz HC, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996 ; 62 : 417-26.
PubMed
15) Robinson PN, Artega-Solis E, Balsock C, et al. The molecular genetics of Marfan syndrome and related disorders. J Med Genet 2006 ; 43 : 769-87.
 
16) Li-Wan-Po A, Loeys B, Farndon P, et al. Preventing the aortic complications of Marfan syndrome : a case example of translational genomic medicine. Br J Clin Pharmacol 2011 ; 72 : 6-17.
PubMed
P.198 掲載の参考文献
1) Utani A, Tanioka M, Yamamoto Y, et al. Relationship between the distribution of pseudoxanthoma elasticum skin and mucous membrane lesions and cardiovascular involvement. J Dermatol 2010 ; 37 : 130-6.
PubMed
1) Bergen AA, Plomp AS, Schuurman EJ, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 2000 ; 25 : 228-31.
PubMed
2) 宇谷厚志, 北岡隆, 前村浩二, ほか. 総括研究報告 弾性線維性仮性黄色腫の病態把握ならびに診断基準作成. 厚生労働科学研究費補助金難治性疾患克服研究事業「弾性線維性仮性黄色腫の病態把握ならびに診断基準作成」平成22年度総括・分担研究報告書. 2012. pp1-24.
 
3) Michigami M, Kudo H, Iwanaga A, et al. Absence of cutaneous symptoms of pseudoxanthoma elasticum at the immobile joint of a stroke patient. Eur J Dermatol 2012 ; 22 : 403-4.
PubMed
4) Ringpfeil F, McGuigan K, Fuchsel L, et al. Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity. J Invest Dermatol 2006 ; 126 : 782-6.
PubMed
5) Nitschke Y, Baujat G, Botschen U, et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 2012 ; 90 : 25-39.
PubMed
6) Egawa Y, Tanioka M, Araki E, et al. Red-brown macules on the abdomen. Clin Exp Dermatol 2008 ; 33 : 219-20.
PubMed
7) 宇谷厚志, 北岡隆, 前村浩二, ほか (厚生労働省難治性疾患克服研究事業「弾性線維性仮性黄色腫の病態把握ならびに診断基準作成」班). 弾性線維性仮性黄色腫診断基準 2012. 日皮会誌 2012 ; 122 : 2303-4.
 
8) Finger RP, Charbel Issa P, Hendig D, et al. Monthly ranibizumab for choroidal neovascularizations secondary to angioid streaks in pseudoxanthoma elasticum : a one-year prospective study. Am J Ophthalmol 2011 ; 152 : 695-703.
PubMed

XVII 多形皮膚萎縮と考えたとき忘れてはならない症候群

P.202 掲載の参考文献
1) Zinsser F. Atrophia cutis reticularis cum pigmentation, dystrophia oris. Iknogre Dermatol 1906 ; 13 : 219-23.
 
1) 大竹直樹, 東裕子, 山元祥子, ほか. Cole-Engman症候群の2例. Skin Cancer 1996 ; 11 : 83-8.
 
2) Engman MF. A unique case of reticular pigmentation of the skin with atrophy. Arch Derm Syph 1926 ; 13 : 685-7.
 
3) Cole HN, Rauschkolb JC, Toomy J. Dyskerotosis congenita with pigmentation dystrophia unguius and leukokerotosis oris. Arch Derm Syph 1930 ; 21 : 71-95.
 
4) Connor JM, Gatherer D, Gray FC, et al. Assignment of the gene for dyskeratosis congenita to Xq28. Hum Genet 1986 ; 72 : 348-51.
PubMed
5) Heiss NS, Knight SW, Vulliamy TJ, et al. X-linked dyskeratosis congenita is caused by mutation in highly conserved gene with putative nucleolar function. Nat Genet 1998 ; 19 : 32-8.
 
6) Knight SW, Heiss NS, Vulliamy TJ, et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. Am J Genet 1999 ; 65 : 50-8.
 
7) 成富研二. 各種疾患にみられる神経疾患 奇形症候群 先天性角化異常症 (Zinsser-Cole-Engman症候群). 別冊 日本臨牀. 神経症候群 V. 2000. pp73-5.
 
8) 坂本邦樹, 北村弥. Cole-Engman症候群. 臨皮 1970 ; 24 : 441-52.
 
9) 伊藤隆, 小池玲子, 斎藤寛治, ほか. Dyskeratosis Congenita. 臨皮 1982 ; 36 : 41-5.
 
10) 新井達, 大川司. dyskeratosis congenita (Cole-Engman症候群). 皮膚病診療 1995 ; 17 : 273-7.
 
11) 大竹直樹. dyskeratosis congenita. 玉置邦彦, ほか編. 最新皮膚科学大系 特別巻 2. 皮膚科症候群. 東京 : 中山書店 ; 2004. pp104-5.
 
12) 冨田浩一, 石井眞澄. Cole-Engman症候群の1例. 皮膚科紀要 1992 ; 87 : 567-73.
 
13) Davidson HR, Conner JM. Dyskeratosis congenita. J Med Genet 1988 ; 25 : 843-6.
 
P.206 掲載の参考文献
1) Kindler T. Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 1954 ; 66 : 104-11.
PubMed
2) Jobard F, Bouadjar B, Caux F, et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet 2003 ; 12 : 925-35.
 
3) Siegel DH, Ashton GH, Penagos HG, et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 2003 ; 73 : 174-87.
PubMed
P.208 掲載の参考文献
1) 竹内聖二, 錦織千佳子. 先天性光線過敏症の概説と最新の知見. MB Derma 2012 ; 191 : 7-14.
 
2) Inamadar AC, Palit A. Photosensitivity in children : an approach to diagnosis and management. Indian J Dermatol Venereol Leprol 2005 ; 71 : 73-9.
PubMed

XVIII ポートワイン母斑と考えたとき忘れてはならない症候群

P.210 掲載の参考文献
1) Lo W, Marchuk DA, Ball KL, et al. Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement. Dev Med Child Neurol 2012 ; 54 : 214-23.
PubMed
2) Comi AM. Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. Neurologist 2011 ; 17 : 179-84.
PubMed
3) Hu J, Yu Y, Juhasz C, et al. MR susceptibility weighted imaging (SWI) complements conventional contrast enhanced T1 weighted MRI in characterizing brain abnormalities of Sturge-Weber syndrome. J Magn Reson Imaging 2008 ; 28 : 300-7.
 
4) Piram M, Lorette G, Sirinelli D, et al. Sturge-Weber syndrome in patients with facial port-wine stain. Pediatr Dermatol 2012 ; 29 : 32-7.
PubMed
5) 大槻泰介. 難治性てんかん外科手術 : 半球離断術. 医学のあゆみ 2010 ; 232 : 1008-10.
Medical*Online
6) 菅野秀宣, 中西肇, 中島円, ほか. Sturge-Weber症候群. Neurological Surgery 2010 ; 38 : 613-20.
 
7) Shirley MD, Tang H, Gallione CJ, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 2013 ; 368 : 1971-9.
PubMed
P.215 掲載の参考文献
1) 西岡和恵, 高旗博昭, 大淵典子. 播種性血管内凝固症候群を呈し, 弾性ストッキングによる圧迫療法が有用であったKlippel-Trenaunay症候群の小児例. 西日皮膚 2006 ; 68 : 146-9.
 
2) 中村貴之, 中村泰大, 川内康弘, ほか. 多発するvenous aneurysmを契機に診断したKlippel-Trenaunay症候群. 皮膚臨床 2009 ; 51 : 185-8.
 
3) Samuel M, Spitz L. Klippel-Trenaunay syndrome : clinical features, complications and management in children. Br J Surg 1995 ; 82 : 757-61.
PubMed
4) Gloviczki P, Driscoll DJ. Klippel-Trenaunay syndrome : current management. Phlebology 2007 ; 22 : 291-8.
PubMed
5) 石塚洋典, 大原國章. Klippel-Trenaunay-Weber症候群. Visual Dermatology 2007 ; 9 : 914-7.
 
6) 伊藤孝明. Klippel-Trenaunay症候群. Visual Dermatology 2011 ; 9 : 928-30.
 
7) 新井正博, 新見正則, 松本秀年, ほか. Klippel-Trenaunay症候群に対する外科的治療の適応と意義. 静脈学 1992 ; 3 : 131-40.
 
8) Jacob AG, Driscoli DJ, Shaughnessy WJ, et al. Klippel-Trenaunay syndrome : spectrum and management. Mayo Clin Proc 1998 ; 73 : 28-36.
 
9) 吉本信也, 一瀬正治, 黒木知明, ほか. Klippel-Weber症候群の治療と長期経過観察. 日形会誌 1999 ; 19 : 1-7.
 

XIX 血管腫と考えたとき忘れてはならない症候群

P.218 掲載の参考文献
1) 倉持朗. Kasabach-Merritt症候群. 塩原哲夫, ほか編. 今日の皮膚疾患治療指針. 第4版. 東京 : 医学書院 ; 2012. pp703-6.
 
2) 渡部利枝子, 桜井由美子, 鈴木正, ほか. Kasabach-Merritt症候群の統計的観察. 皮膚臨床 1986 ; 28 : 597-601.
 
3) 渡部利枝子. 日常診療における小児の皮膚病 Kasabach-Merritt syndrome. 皮膚臨床 1989 ; 31 : 1058-9.
 
4) 原田洋至, 郡司裕則, 佐藤守弘, ほか. Angioblastoma 様組織像を呈したKasabach-Merritt症候群. 臨皮 1994 ; 48 : 301-5.
 
5) Fost NC, Esterly NB. Successful treatment of juvenile hemangiomas with prednisone. J Pediatr 1968 ; 72 : 351-7.
PubMed
6) Zarem HA, Edgerton MT. Induced resolution of cavernous hemangiomas following prednisolone therapy. Plast Reconstr Surg 1967 ; 39 : 76-83.
PubMed
7) 小宮山純, 鬼島正典, 高橋三津雄, ほか. アミロイドとλ鎖の同時沈着による骨格筋仮性肥大型ミオパチーの筋病理. 神経内科 1996 ; 45 : 82.
 
P.221 掲載の参考文献
1) Bean WB. Blue rubber-bleb nevi of the skin and gastrointestinal tract. In : Vascular Spiders and Related Lesions of the Skin. Springfield : Charles C Thomas ; 1958. pp178-85.
 
2) Berlyne GM, Berlyne N. Anaemia due to "blue-rubber-bleb" naevus disease. Lancet 1960 ; 2 : 1275-7.
 
3) Fine RM, Derbes VJ, Clark WH Jr. Blue rubber bleb nevus. Arch Dermatol 1961 ; 84 : 802-5.
PubMed
4) 川崎勇夫, 清原隆宏, 熊切正信. blue rubber bleb nevus syndrome. 皮膚病診療 2001 ; 23 : 131-4.
 
5) Fretzin DF, Potter B. Blue rubber bleb nevus. Arch Intern Med 1965 ; 116 : 924-9.
PubMed
6) Kumakiri M, Fukaya T, Miura Y. Blue rubber-bleb nevus syndrome with Masson's vegetant intravascular hemangioendothelioma. J Cutan Pathol 1981 ; 8 : 365-73.
 
7) 川崎勇夫, 清原隆宏, 熊切正信. 青色ゴム乳首様血管腫. 玉置邦彦, ほか編. 最新皮膚科学大系 13. 神経系腫瘍 間葉系腫瘍. 東京 : 中山書店 ; 2002. pp174-6.
 
8) 清原隆宏, 熊切正信. blue rubber nevus syndrome. 玉置邦彦, ほか編. 最新皮膚科学大系 特別巻 2. 皮膚科症候群. 東京 : 中山書店 ; 2004. pp50-1.
 
9) Olsen TG, Milroy SK, Goldman L, et al. Laser surgery for blue rubber bleb nevus. Arch Dermatol 1979 ; 115 : 81-2.
PubMed
P.225 掲載の参考文献
1) Maffucci A. Di un caso di endchondroma ed angioma multiple. Contriburione alla genesi embrionale der tumor. Mov Med Chir Nap 1882 ; 3 : 399-412.
 
2) Carleton A, Elkington J, Greenfield JG, et al. Maffucci's syndrome (dyschondroplasia with haemangiomatoma). Quart J Med 1942 ; 11 : 203-28.
 
3) Lewis RJ, Ketcham AS. Maffucci's syndrome : functional and neoplastic significance. Case report and review of the literature. J Bone Joint Surg 1973 ; 55-A : 1465-79.
PubMed
4) 萩原謙, 植田利貞, 鈴木哲郎, ほか. 小腸血管腫を合併したMaffucci症候群の1例. 日臨外会誌 2005 ; 66 : 88-92.
 
5) 仲弥, 原田敬之. Maffucci症候群1例報告と本邦例の集計. 臨皮 1988 ; 42 : 201-8.
 
6) 井澤淑郎, 中川潤. Maffucci症候群. 小児内科 1987 ; 19 (臨時増刊) : 396-9.
 
7) 出月健夫. Maffucci症候群. Visual Dermatology 2011 ; 10 : 730-1.
 
8) 鈴木寛丈, 林伸和, 蓮田美哉子, ほか. Maffucci症候群の1例. 臨皮 1994 ; 36 : 432-3.
 
9) 山脇光夫, 二村省三, 堀尾武, ほか. Maffucci症候群の1例. 皮膚 1995 ; 37 : 356-62.
 
10) 元持雅雄, 牧田泰正, 鍋島祥男, ほか. 頭蓋内病巣を伴ったMaffucci症候群の1例. 脳外 1979 ; 7 : 1011-5.
 
11) 中川潤, 井沢淑郎, 亀下喜久男, ほか. 著明な脚長差のため切断を余儀なくされたMaffucci症候群の1例. 整・災害 1986 ; 29 : 577-83.
 
P.228 掲載の参考文献
1) Dispenzieri A. POEMS syndrome : 2011 update on diagnosis, risk-stratification, and management. Am J Hematol 2011 ; 86 : 591-601.
PubMed
1) Crow RS. Peripheral neuritis in myelomatosis. Br Med J 1956 ; 2 : 802-4.
PubMed
2) 深瀬政市, 新保慎一郎, 福増広幸, ほか. 多発性単神経炎および内分泌異常を惹起した孤立生骨髄腫. 日本臨牀 1968 ; 26 : 2440-56.
 
3) Watanabe O, Maruyama I, Arimura K, et al. Overproduction of vascular endothelial growth factor/vascular permeability factor is causative in Crow-Fukase (POEMS) syndrome. Muscle Nerve 1998 ; 21 : 1390-7.
PubMed
4) Nakanishi T, Sobue I, Toyokura Y, et al. The Crow-Fukase syndrome : a study of 102 cases in Japan. Neurology 1984 ; 34 : 712-20.
PubMed
5) 納光弘, 有村公良, 上原明子, ほか. Crow-Fukase症候群の全国疫学調査 2004. 厚生労働省免疫性神経疾患に関する調査研究班平成16年度報告書. pp141-4.
 
6) 佐久間優, 水谷建太郎, 渡辺大輔, ほか. 皮膚病変から診断しえたPOEMS症候群の1例. 臨皮 2007 ; 61 : 151-4.
 
7) 増沢幹男. POEMS症候群. 別冊日本臨牀 領域別症候群シリーズ II. 内分泌症候群-関連内分泌病を含めて (下巻). 1993. pp598-601.
 
8) 有村公良, 橋口照人, 梅原藤雄. Crow-Fukase症候群とVEGF. 神経研究の進歩 2003 ; 47 : 545-54.
 
9) 桑原聡. 難治性末梢神経障害の治療の進歩と展望 : 免疫性ニューロパチーとCrow-Fukase症候群を中心に. 臨床神経 2010 ; 50 : 219-24.
 
P.232 掲載の参考文献
1) Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995 ; 333 : 918-24.
PubMed
2) McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994 ; 8 : 345-51.
PubMed
3) Johnson DW, Berg JN, Baldwin MA, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet 1996 ; 13 : 189-95.
PubMed
4) Dupuis-Girod S, Bailly S, Plauchu H. Hereditary hemorrhagic telangiectasia : from molecular biology to patient care. J Thromb Haemost 2010 ; 8 : 1447-56.
PubMed
5) 阿部理一郎. Osler病. 玉置邦彦, ほか編. 最新皮膚科学大系 11. 母斑・母斑症 悪性黒色腫. 東京 : 中山書店 ; 2002. pp180-2.
 
6) Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia : a clinical and scientific review. Eur J Hum Genet 2009 ; 17 : 860-71.
PubMed
7) Shovlin CL, Guttmacher AE, Buscarini E, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000 ; 91 : 66-7.
PubMed
8) 山岡俊文, 小寺雅也, 岩田洋平, ほか. Osler-Rendu-Weber病. Visual Dermatology 2011 ; 10 : 734-5.
 
9) 菊池恒, 今吉正一郎, 山内智彦, ほか. オスラー病において鼻粘膜皮膚置換術を行った22例の臨床的検討. 日耳鼻 2012 ; 115 : 108-11.
 
10) 高橋守, 山田玄, 澤住知枝, ほか. 肝動静脈奇形を伴った両側の肺動静脈奇形に対しコイル塞栓術で治療した1例. 日呼吸会誌 2009 ; 47 : 1103-7.
Medical*Online
11) Cag M, Audet M, Saouli AC, et al. Successful liver transplantation for Rendu-Weber-Osler disease, a single centre experience. Hepatol Int 2011 ; 5 : 834-40.
PubMed
12) Lerut J, Orlando G, Adam R, et al. Liver transplantation for hereditary hemorrhagic telangiectasia : report of the European liver transplant registry. Ann Surg 2006 ; 244 : 854-62.
PubMed

XX リンパ浮腫と考えたとき忘れてはならない症候群

P.236 掲載の参考文献
1) Stewart FW, Treves N. Lymphangiosarcoma in postmastectomy lymphedema. Cancer 1948 ; 1 : 64-81.
PubMed
2) 太田邦夫, 馬場恒男. Postmastectomy lymphangiosarcoma. 癌の臨牀 1957 ; 3 : 30-5.
 
3) 米田和史, 戸崎裕子, 亀井和可奈, ほか. Stewart-Treves症候群の2例. Skin Cancer 2003 ; 18 : 56-60.
 
4) Schirger A. Postoperative lymphedema : etiologic and diagnostic factors. Med Clin North Am 1962 ; 46 : 1045-50.
PubMed
5) 梅原嘉一, 山本昇三, 矢野正一郎, ほか. Stewart-Treves症候群の1例. 臨皮 2012 ; 66 : 474-8.
 
6) Ruocco V, Schwartz RA, Ruocco E. Lymphedema : an immunologically vulnerable site for development of neoplasms. J Am Acad Dermatol 2002 ; 47 : 124-7.
PubMed
7) Schreiber H, Barry FM, Russell WC, et al. Stewart-Treves syndrome. Arch Surg 1979 ; 114 : 82-5.
PubMed
8) Herrmann JB. Lymphangiosarcoma of the chronically edematous extremity. Surg Gynecol Obstet 1965 ; 121 : 1107-15.
PubMed
9) Woodward AH, Ivins JC, Soule ED. Lymphangiosarcoma arising in chronic lymphedematous extremities. Cancer 1972 ; 30 : 562-72.
 
10) 増澤幹男. 脈管肉腫. 玉置邦彦, ほか編. 最新皮膚科学大系 13. 神経系腫瘍 間葉系腫瘍. 東京 : 中山書店 ; 2002. pp194-8.
 
11) Grobmyer SR, Daly JM, Glotzbach RE, et al. Role of surgery in the management of postmastectomy extremity angiosarcoma (Stewart-Treves syndrome). J Surg Oncol 2000 ; 73 : 182-8.
PubMed
12) 佐藤寛子, 石塚洋典, 藤沢康弘, ほか. 拡大切除を契機に急速に進展したStewart-Treves症候群. 皮膚臨床 2008 ; 50 : 183-5.
 
13) 滝口光次郎, 倉持朗, 土田哲也. 最近の新薬について : タキソイド系抗癌剤. 皮膚臨床 2007 ; 49 : 1215-8.
 
14) 安井宏仁, 倉持朗, 滝口光次郎, ほか. タキサン系抗癌剤で治療したStewart-Treves症候群の1例. 皮膚臨床 2011 ; 53 : 1459-62.
 
15) 増澤幹男. 血管肉腫の治療. MB Derma 2003 ; 77 : 57-63.
 
16) Morimer PS. Therapy approach for lymphedema. Angiology 1977 ; 48 : 87-91.
 
P.239 掲載の参考文献
1) Samman PD, White WF. The "yellow nail" syndrome. Br J Dermatol 1964 ; 76 : 153-7.
PubMed
2) Emerson PA. Yellow nails, lymphoedema, and pleural effusions. Thorax 1966 ; 21 : 247-53.
PubMed
3) Hiller E, Rosenow EC 3rd, Olsen AM. Pulmonary manifestations of the yellow nail syndrome. Chest 1972 ; 61 : 452-8.
PubMed
4) Nordkild P, Kromann-Andersen H, Struve-Christensen E. Yellow nail syndrome-the triad of yellow nails, lymphedema and pleural effusions. A review of the literature and a case report. Acta Med Scand 1986 ; 219 : 221-7.
 
5) Hoque SR, Mansour S, Mortimer PS. Yellow nail syndrome : not a genetic disorder? Eleven new cases and a review of the literature. Br J Dermatol 2007 ; 156 : 1230-4.
PubMed
6) Maldonado F, Tazelaar HD, Wang CW, et al. Yellow nail syndrome : analysis of 41 consecutive patients. Chest 2008 ; 134 : 375-81.
PubMed
7) 土井理左, 岡本祐之, 堀尾武. 3 主徴と副鼻腔炎を伴うyellow nail症候群の1例 クラリスロマイシンによる治療. 日皮会誌 2002 ; 112 : 261-5.
 
8) Iqbal M, Rossoff LJ, Marzouk KA, et al. Yellow nail syndrome : resolution of yellow nails after successful treatment of breast cancer. Chest 2000 ; 117 : 1516-8.
PubMed
9) Guin JD, Elleman JH. Yellow nail syndrome. Possible association with malignancy. Arch Dermatol 1979 ; 115 : 734-5.
PubMed
10) 大川司, 刀禰毅, 衛藤光, ほか. 呼吸器と皮膚yellow nail症候群. 皮膚病診療 1992 ; 14 : 447-50.
 
11) 篠原理恵, 朝山祥子, 二神綾子, ほか. 黄色爪症候群の2例. 皮膚臨床 2012 ; 54 : 743-6.
 
12) Tosti A, Piraccini BM, Iorizzo M. Systemic itraconazole in the yellow nail syndrome. Br J Dermatol 2002 ; 146 : 1064-7.
PubMed
13) Luyten C, Andre J, Walraevens C, et al. Yellow nail syndrome and onychomycosis. Experience with itraconazole pulse therapy combined with vitamin E. Dermatology 1996 ; 192 : 406-8.
PubMed
14) Ayres S Jr, Mihan R. Yellow nail syndrome : response to vitamin E. Arch Dermatol 1973 ; 108 : 267-8.
PubMed
15) Suzuki M, Yoshizawa A, Sugiyama H, et al. A case of yellow nail syndrome with dramatically improved nail discoloration by oral clarithromycin. Case Rep Dermatol 2011 ; 3 : 251-8.
PubMed
16) 東禹彦. 黄色爪症候群. 爪-基礎から臨床まで. 東京 : 金原出版 ; 2004. pp74-5.
 
17) Yamagishi T, Hatanaka N, Kamemura H, et al. Idiopathic yellow nail syndrome successfully treated with OK-432. Intern Med 2007 ; 46 : 1127-30.
PubMed
18) Szolnoky G, Lakatos B, Husz S, et al. Improvement in lymphatic function and partial resolution of nails after complex decongestive physiotherapy in yellow nail syndrome. Int J Dermatol 2005 ; 44 : 501-3.
PubMed

XXI 黒子と考えたとき忘れてはならない症候群

P.244 掲載の参考文献
1) Connor JT. Aesculapian society of London. Lancet 1895 ; 2 : 1169.
 
2) Peutz JLA. Very remarkable case of familial polyposis of mucous membrane of interstitial tract and nasopharynx accompanied by peculiar pigmentation of skin and mucous membrane. Ned Maandschr Geneeskd 1921 ; 10 : 134-6.
 
3) Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits. N Engl J Med 1949 ; 241 : 993-1005.
PubMed
4) Bruwer A, Bargen JA, Kieland RR. Surface pigmentation and generalized intestinal polyposis (Peutz-Jeghers syndrome). Proc Mayo Clin 1954 ; 29 : 168-71.
 
5) Jenne DE, Reinmann H, Nezu J, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 1998 ; 18 : 38-43.
 
6) Alessi DR, Dario R, Sakamoto K, et al. LKB1-dependent signaling pathways. Ann Rev Biochem 2006 ; 75 : 137-63.
 
7) Heymann WR. Peutz-Jeghers syndrome. J Am Acad Dermatol 2007 ; 57 : 513-4.
PubMed
8) 大宮直木, 中村正直, 竹中宏之, ほか. 過誤腫性ポリポーシスPeutz-Jeghers症候群の長期経過. 胃と腸 2010 ; 45 : 2079-84.
 
9) McGrath DR, Spigelman AD. Preventative measures in Peutz-Jeghers syndrome. Fam Cancer 2001 ; 1 : 121-5.
PubMed
10) Gastineau S, Viala J, Caldari D, et al. Contribution of capsule endoscopy to Peutz-Jeghers syndrome management in children. Digest Liver Dis 2012 ; 44 : 839-43.
PubMed
11) Baran R. Longitudinal melanotic streaks are crue to Laugier-Hunziker syndrome. Arch Dermatol 1979 ; 115 : 1448-9.
 
12) Koch SE, LeBoit PE, Odom RB. Laugier-Hunziker syndrome. J Am Acad Dermatol 1987 ; 16 : 431-4.
PubMed
13) Cronkheit LS, Canada WJ. Generalized intestinal polyposis : an unusual syndrome of polyposis, pigmentation, alopecia and onychotrophia. N Engl J Med 1955 ; 252 : 1011-5.
 
14) Beggs AD, Latchford AR, Vasen HF, et al. Peutz-Jghers syndrome : a systemic review and recommendations for management. Gut 2010 ; 59 : 975-86.
 
15) Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in Peutz-Jeghers syndrome. Clin Cancer Res 2006 ; 12 : 3209-15.
PubMed
P.248 掲載の参考文献
1) Laugier P, Hunziker N. Essential lenticular melanic pigmentation of the lip and cheek mucosa. Arch Belg Dermatol Syphilol 1970 ; 26 : 391-9.
 
2) Baran R. Longitudinal melanotic streaks are crue to Laugier-Hunziker syndrome. Arch Dermatol 1979 ; 115 : 1448-9.
 
3) 中村透子, 藤原貴史, 村田洋三, ほか. Laugier病 (Laugier-Hunziker症候群) の9例. 日皮会誌 1997 ; 107 : 29-34.
 
4) Ho KK, Dervan P, O'Loughlin S, et al. Labial melanotic macule : a clinical, histopathologic, and ultrastructural study. J Am Acad Dermatol 1993 ; 28 : 33-9.
PubMed
5) 新山史朗, 岡本潔, 音山和宣. 液体窒素療法が有効であったLaugier-Hunziker-Baran症候群. 臨皮 1999 ; 53 : 56-8.
 
6) 飯豊深雪, 宮沢仁. 8年間の皮疹の変化を観察したLaugier-Hunziker症候群の1例. 皮膚 1999 ; 41 : 352-5.
 
7) 三浦宏之, 小豆沢宏明, 板見智, ほか. Laugier-Hunziker-Baran症候群の2例. 臨皮 2000 ; 54 : 250-2.
 
8) 北島康之, 伊藤美保, 槙坪康子. Laugier-Hunziker-Baran症候群. 西日皮膚 2000 ; 62 : 189-91.
 
9) 山本菜穂子, 田中信. Laugier-Hunziker病. 皮膚臨床 2001 ; 43 : 908-9.
 
10) 西山茂夫. 爪疾患カラーアトラス. 東京 : 南江堂 ; 1993. p15.
 
11) 櫻根義久, 伊崎誠一, 北村啓次郎. Laugier-Hunziker症候群. 皮膚病診療 2001 ; 23 : 799-802.
 
12) 福島豊, 松瀬陽子, 山本真実子, ほか. Laugier-Hunziker-Baran症候群の2例. 日本口腔外科学会雑誌 2004 ; 50 : 620-3.
 
13) Veraldi S, Cavicchini S, Benelli C, et al. Laugier-Hunziker syndrome : a clinical, histopathologic, and ultrastructural study of four cases and review of the literature. J Am Acad Dermatol 1991 ; 25 : 632-6.
PubMed
14) 多田正大, 菅田信之, 清水誠治. 消化管ポリポーシス 2000 Peutz-Jeghers症候群. 胃と腸 2000 ; 35 : 342-8.
 
15) 八重樫寛治, 宇都宮譲二. Peutz-Jeghers症候群のnatural historyとその治療. 最新医学 1981 ; 36 : 134-42.
Medical*Online
16) 山本匡, 沼田恒実, 春間賢. Peutz-Jeghers症候群. 皮膚病診療 1988 ; 10 : 937-40.
 
17) 土橋英治, 川島真, 中川秀己, ほか. Peutz-Jeghers症候群の2例 口唇色素斑の液体窒素療法. 皮膚臨床 1988 ; 30 : 59-62.
 
18) 濱田稔夫. 皮膚色素沈着症の臨床と治療. 大阪医学 1996 ; 29 (2) : 1-9.
 
19) 松本敏明. 皮膚外科マニュアル 手術手技 レーザー療法. 皮膚臨床 1990 ; 32 : 1507-19.
 
P.251 掲載の参考文献
1) Cronkhite LW Jr, Canada WJ. Generalized gastrointestinal polyposis ; an unusual syndrome of polyposis, pigmentation, alopecia and onychotrophia. N Engl J Med 1955 ; 252 : 1011-5.
PubMed
2) 後藤明彦. 特集 : 消化管ポリープ 悪性化をめぐる診断治療の問題 特殊な消化管ポリープ, ポリポーシス 臨床と本邦症例の集計 Cronkhite-Canada症候群. 日本臨牀 1991 ; 49 : 2955-60.
 
3) 澤田美月, 尾立冬樹, 沢井利恵, ほか. Cronkhite-Canada症候群の1例. 皮膚臨床 2004 ; 46 : 927-30.
 
4) 田中京子, 吉澤奈穂, 小菅治彦, ほか. 手足の色素病変 <臨床例> -Cronkhite-Canada症候群. 皮膚病診療 2007 ; 29 : 27-30.
 
5) 岡田絵美子, 田中京子, 稲積豊子, ほか. Cronkhite-Canada症候群の1例. 臨皮 2012 ; 66 : 503-7.
 
6) 永田貴久, 木村達, 遠藤伸悟. 人名症候群 <臨床例> -Cronkhite-Canada症候群. 皮膚病診療 2008 ; 30 : 1233-6.
 
7) 後藤明彦. Cronkhite-Canada症候群. 別冊日本臨牀 領域別症候群シリーズ. 消化管症候群 下巻. 1994. pp23-6.
 
8) Yashiro M, Kobayashi H, Kubo N, et al. Cronkhite-Canada syndrome containing colon cancer and serrated adenoma lesions. Digestion 2004 ; 69 : 57-62.
PubMed
P.254 掲載の参考文献
1) 吉田理恵. LEOPARD症候群. 別冊日本臨牀 新領域別症候群シリーズ 内分泌症候群 (第2版) III. 2006. pp465-7.
 
1) Gorlin RJ, Anderson RC, Blaw M. Multiple lentigenes syndrome. Am J Dis Child 1969 ; 117 : 652-62.
PubMed
2) Digilio MC, Conti E, Sarkozy A, et al. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 2002 ; 71 : 389-94.
PubMed
3) Legius E, Schrander-Stumpel C, Schollen E, et al. PTPN11 mutations in LEOPARD syndrome. J Med Genet 2002 ; 39 : 571-4.
PubMed
4) Voron DA, Hatfield HH, Kalkhoff RK. Multiple lentigines syndrome. Case report and review of the literature. Am J Med 1976 ; 60 : 447-56.
PubMed
5) 大西誉光, 渡辺晋一. 母斑, ほくろが多い. 小児内科 2011 ; 43 : 1735-7.
Medical*Online
6) Bleehen SS, Anstey AV. lentiginosis. In : Burns T, et al, editors. Textbook of Dermatology. 7th ed. Boston : Blackwell Science ; 2004. pp39.16-39.18.
 

XXII 多発性皮膚腫瘍と考えたとき忘れてはならない症候群

P.258 掲載の参考文献
1) Moore RL, Devere TS. Epidermal manifestations of internal malignancy. Dermatol Clin 2008 ; 26 : 17-29.
PubMed
1) Rampen FH, Schwengle LEM. The sign of Leser-Trelat : Does it exist? J Am Acad Dermatol 1989 ; 21 : 50-5.
 
2) Ellis DL, Yates RA. Sign of Leser-Trelat. Clin Dermatol 1993 ; 11 : 141-8.
PubMed
3) Heng MCY, Soo-Hoo K, Levine S, et al. Linear seborrheic keratoses associated with underlying malignancy. J Am Acad Dermatol 1988 ; 18 : 1316-21.
 
4) 上野賢一, 高瀬孝子. 黒色表皮腫. 石橋康正, 編. 皮膚科Mook 15. 角化異常症. 東京 : 金原出版 ; 1989. pp133-47.
 
5) Holdiness MR. On the classification of the sign of Leser-Trelat. J Am Acad Dermatol 1988 ; 19 : 754-7.
 
6) Cox NH, Coulson IA. The sign of Leser-Trelat. In : Burns T, et al, editors. Rook's Textbook of Dermatology. 8th ed. Oxford : Wiley-Blackwell ; 2010. p62.32.
 
7) Lindelof B, Sigurgeirsson B, Melander S. Seborrheic keratosis and cancer. J Am Acad Dermatol 1992 ; 26 : 947-50.
 
8) Schwartz RA. Sign of Leser-Trelat. J Am Acad Dermatol 1996 ; 35 : 88-95.
 
9) Kirkham N. Leser-Trelat sign. In : Elder DE, et al, editors. Lever's Histopathology of the Skin. 9th ed. Philadelphia : JB Lippincott ; 2004. p813.
 
10) 古畑由美子, 五十嵐勝, 磯部環貴, ほか. デルマドロームにより発見された胃癌の1例. 皮膚臨床 2003 ; 45 : 1649-52.
 
P.262 掲載の参考文献
1) Muir EG, Yates Bell AJ, Barlow KA. Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthoma of the face. Br J Surg 1967 ; 54 : 191-5.
 
2) Torre D. Multiple sebaceous neoplasms of the skin. Arch Dermatol 1968 ; 98 : 549-51.
 
3) 大島昇, 白井明, 川口真喜子, ほか. Muir-Torre症候群の父子発症例 : 免疫組織化学検査の有用性. 日皮会誌 2011 ; 121 : 31-8.
 
4) Kacerovska D, Cerna K, Martinek P, et al. MSH6 mutation in a family affected by Muir-Torre syndrome. Am J Dermatopathol 2012 ; 34 : 648-52.
 
5) Kruse R, Rutten A, Lamberti C, et al. Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. Am J Hum Genet 1998 ; 63 : 63-70.
 
6) Kubota T, Dakeishi M, Nozaki J, et al. Probable involvement of a germ-line mutation of an unknown mismatch repair gene in a Japanese Muir-Torre syndrome phenotype. J Dermatol Sci 2000 ; 23 : 117-25.
 
7) 安齋眞一. CPC clinicopathological conference (095). Visual Dermatology 2011 ; 10 : 188-92.
 
8) Schwartz RA, Torre DP. The Muir-Torre syndrome : a 25-year retrospect. J Am Acad Dermatol 1995 ; 33 : 90-104.
PubMed
9) 安齋眞一, 三砂範幸, 三原一郎, ほか. Muir-Torre症候群の一症例に生じた皮膚腫瘍の病理組織学的検討-脂腺腫瘍の新分類に基づく病理組織学的検討. 日皮会誌 2002 ; 112 : 1601-9.
 
10) Rutten A, Burgdorf W, Hugel H, et al. Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome : a histopathologic and molecular genetic study. Am J Dermatopathol 1999 ; 21 : 405-13.
PubMed
11) Nussen S, Ackerman AB. Sebaceous "adenoma" is sebaceous carcinoma. Dermatopathol Pract Concept 1998 ; 4 : 5-14.
 
12) Ackerman AB, Nussen-Lee S. Neoplasms in all organs of Muir-Torre syndrome are carcinomas : sebaceous carcinomas and squamous-cell carcinomas (keratoacanthomas) in skin and adenocarcinomas, squamous-cell carcinomas, and transitional-cell carcinomas in internal organs. Dermatopathol Pract Concept 1999 ; 5 : 312-8.
 
13) Lee BA, Yu L, Ma L, et al. Sebaceous neoplasms with mismatch repair protein expressions and the frequency of co-existing visceral tumors. J Am Acad Dermatol 2012 ; 67 : 1228-34.
 
P.266 掲載の参考文献
1) Birt AR, Hogg GR, Dube WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 1977 ; 113 : 1674-7.
PubMed
2) Pinkus H, Coskey R, Burgess GH. Trichodiscoma. A benign tumor related to haarscheibe (hair disk). J Invest Dermatol 1974 ; 63 : 212-8.
PubMed
3) Roth JS, Rabinowitz AD, Benson M, et al Bilateral renal cell carcinoma in the Birt-Hogg-Dube syndrome. J Am Acad Dermatol 1993 ; 29 : 1055-6.
PubMed
4) Toro JR, Glenn G, Duray P, et al. Birt-Hogg-Dube syndrome : a novel marker of kidney neoplasia. Arch Dermatol 1999 ; 135 : 1195-202.
PubMed
5) Schmidt LS, Warren MB, Nickerson ML, et al. Birt-Hogg-Dube syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet 2001 ; 69 : 876-82.
PubMed
6) Nickerson ML, Warren MB, Toro JR, et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome. Cancer Cell 2002 ; 2 : 157-64.
 
7) Nahorski MS, Lim DH, Martin L, et al. Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer. J Med Genet 2010 ; 47 : 385-90.
PubMed
8) 飛野和則, 吉川美加, 郡司陽子, ほか. 全身性疾患に伴う呼吸障害 Birt-Hogg-Dube症候群. 呼吸 2010 ; 292 : 172-8.
 
9) Toro JR, Wei MH, Glenn GM, et al. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome : a new series of 50 families and a review of published reports. J Med Genet 2008 ; 45 : 321-31.
 
10) Zbar B, Alvord WG, Glenn G, et al. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube syndrome. Cancer Epidemiol Biomarkers Prev 2002 ; 11 : 393-400.
PubMed
11) Schmidt LS. Birt-Hogg-Dube syndrome : from gene discovery to molecularly targeted therapies. Fam Cancer 2012 Oct 30. [PMID : 23108783, Epub ahead of print]
 
12) Schmidt LS, Nickerson ML, Warren MB, et al. Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. Am J Hum Genet 2005 ; 76 : 1023-33.
PubMed
13) Vocke CD, Yang Y, Pavlovich CP, et al. High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors. J Natl Cancer Inst 2005 ; 97 : 931-5.
PubMed
14) Hong SB, Oh H, Valera VA, et al. Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling. Mol Cancer 2010 ; 9 : 160.
PubMed
15) Baba M, Hong SB, Sharma N, et al. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci U S A 2006 ; 103 : 15552-7.
PubMed
16) Hasumi H, Baba M, Hong SB, et al. Identification and characterization of a novel folliculin-interacting protein FNIP2. Gene 2008 ; 415 : 60-7.
PubMed
17) 石原幸子, 木本雅之, 木花光, ほか. にきびに似た皮膚病-非炎症性 <臨床例> -Birt-Hogg-Dube症候群. 皮膚病診療 2003 ; 25 : 1115-8.
 
18) Tobino K, Gunji Y, Kurihara M, et al. Characteristics of pulmonary cysts in Birt-Hogg-Dube syndrome : thin-section CT findings of the chest in 12 patients. Eur J Radiol 2011 ; 77 : 403-9.
PubMed
19) 負門克典. 比較的まれな肺疾患の画像診断. 日本胸部臨床 2011 ; 70 : 265-80.
Medical*Online
20) Toro JR, Pautler SE, Stewart L, et al. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome. Am J Respir Crit Care Med 2007 ; 175 : 1044-53.
PubMed
21) Pavlovich CP, Grubb RL 3rd, Hurley K, et al. Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome. J Urol 2005 ; 173 : 1482-6.
PubMed
P.271 掲載の参考文献
1) Ancell H. History of a remarkable case of tumours, developed on the head and face. Med Chir Trans 1842 ; 25 : 227-306.
PubMed
2) Spiegler E. Uber Endotheliome der Haut. Arch Derm Syph 1899 ; 50 : 163-76.
 
3) Brooke HG. Epithelioma adenoides cysticum. Br J Dermatol 1892 ; 4 : 269-87.
 
4) Fordyce JA. Multiple benign cystic epithelioma of the skin. J Cutan Genito-urin Dis 1892 ; 10 : 459-73.
 
5) Zhang XJ, Liang YH, He PP, et al. Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. J Invest Dermatol 2004 ; 122 : 658-64.
PubMed
6) Bignell GR, Warren W, Seal S, et al. Identification of the familial cylindromatosis tumour-suppressor gene. Nat Genet 2000 ; 25 : 160-5.
PubMed
7) Trompouki E, Hatzivassiliou E, Tsichritzis T, et al. CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members. Nature 2003 ; 424 : 793-6.
PubMed
8) 林裕嘉, 森布衣子, 木花いづみ, ほか. Brooke-Spiegler症候群の1例. 臨皮 2009 ; 63 : 655-8.
 
9) Parren LJ, Bauer B, Hamm H, et al. Brooke-Spiegler syndrome complicated by unilateral hearing loss. Int J Dermatol 2008 ; 47 : 56-9.
PubMed
10) Oosterkamp HM, Neering H, Nijman SM, et al. An evaluation of the efficiency of topical application of salicylic acid for the treatment of familial cylindromatosis. Br J Dermatol 2006 ; 155 : 182-5.
 
11) Kazakov DV, Zelger B, Rutten A, et al. Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome. Am J Surg Pathol 2009 ; 33 : 705-19.
PubMed
P.276 掲載の参考文献
1) Kinzler KW, Nilbert MC, Su LK, et al. Identification of FAP locus genes from chromosome 5q21. Science 1991 ; 253 : 661-5.
PubMed
2) 成澤寛, 日野由和夫, 幸田弘. Gardner症候群の1家系例. 西日皮膚 1985 ; 47 : 1053-9.
 
3) 成澤寛, 日野由和夫, 幸田弘. Gardner症候群皮膚病変の病理学的研究-嚢腫性病変の発生病理. 日皮会誌 1985 ; 95 : 869-76.
 
4) Narisawa Y, Kohda H. Cutaneous cysts of Gardner's syndrome are similar to follicular stem cells. J Cutan Pathol 1995 ; 22 : 661-5.
 
P.280 掲載の参考文献
1) Jarisch W. Zur Lehre von den Hautgeschwulsten. Arch Dermatol Syphilol 1894 ; 28 : 162-222.
 
2) Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib : a syndrome. N Engl J Med 1960 ; 262 : 908-12.
PubMed
3) Johnson RL, Rothrnan AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996 ; 272 : 1668-71.
 
4) Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine 1987 ; 66 : 98-113.
PubMed
5) Jones KL, Smith DW, Harvey MA, et al. Older paternal age and fresh gene mutation : data on additional disorders. J Pediatr 1975 ; 86 : 84-8.
PubMed
6) Springate JE. The nevoid basal cell carcinoma syndrome. J Pediatr Surg 1986 ; 21 : 908-10.
PubMed
7) 田辺良, 藤井克則, 宮下俊之, ほか. Gorlin症候群における臨床的検討-主要症状を中心とした多様な症候スペクトラム. 脳と発達 2009 ; 41 : 253-7.
Medical*Online
8) 宮下俊之, 桐生麻衣子, 齋藤加代子, ほか. 見逃してはいけない家族性腫瘍 : 本邦における母斑基底細胞癌症候群の遺伝子変異と臨床的特徴. 家族性腫瘍 2011 ; 11 : 14-8.
Medical*Online
9) Hahn H, Wicking C, Zaphiropoulous PG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996 ; 85 : 841-51.
PubMed
10) Johnson RL, Rothman AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996 ; 272 : 1668-71.
PubMed
11) 萩原弘一. Hedgehog シグナル伝達系と肺がん. がん分子標的治療 2011 ; 9 : 18-21.
Medical*Online
12) Vorechovsky I, Tingby O, Hartman M, et al. Somatic mutations in the human homologue of Drosophila patched in primitive neuroectodermal tumours. Oncogene 1997 ; 15 : 361-6.
PubMed
13) Lam CW, Xie J, To KF, et al. A frequent activated smoothened mutation in sporadic basal cell carcinomas. Oncogene 1999 ; 18 : 833-6.
PubMed
14) Nagao K, Toyoda M, Takeuchi-Inoue K, et al. Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons. Genomics 2005 ; 85 : 462-71.
PubMed
15) Nagao K, Togawa N, Fujii K, et al. Detecting tissue-specific alternative splicing and disease-associated aberrant splicing of the PTCH gene with exon junction microarrays. Hum Mol Genet 2005 ; 14 : 3379-88.
PubMed
16) Uchikawa H, Toyoda M, Nagao K, et al. Brain-and heart-specific Patched-1 containing exon 12b is a dominant negative isoform and is expressed in medulloblastomas. Biochem Biophys Res Commun 2006 ; 349 : 277-83.
PubMed
17) Howell JB, Freeman RG. Structure and significance of the pits with their tumors in the nevoid basal cell carcinoma syndrome. J Am Acad Dermatol 1980 ; 2 : 224-38.
PubMed
18) Gutierrez MM, Mora RG. Nevoid basal cell carcinoma syndrome. A review and case report of a patient with unilateral basal cell nevus syndrome. J Am Acad Dermatol 1986 ; 15 : 1023-30.
PubMed
19) Evans DG, Ladusans EJ, Rimmer S, et al. Complications of the naevoid basal cell carcinoma syndrome : results of a population based study. J Med Genet 1993 ; 30 : 460-4.
PubMed
20) Madras J, Lapointe H. Keratocystic odontogenic tumour : reclassification of the odontogenic keratocyst from cyst to tumour. J Can Dent Assoc 2008 ; 74 : 165-165h.
PubMed
21) Kimonis VE, Goldstein AM, Pastakia B, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997 ; 69 : 299-308.
PubMed
22) Walter AW, Pivnick EK, Bale AE, et al. Complications of the nevoid basal cell carcinoma syndrome : a case report. J Pediatr Hematol Oncol 1997 ; 19 : 258-62.
 
23) Von Hoff DD, LoRusso PM, Rudin CM, et al. Inhibition of the hedgehog pathway in advanced basal-cell carcinoma. N Engl J Med 2009 ; 361 : 1164-72.
PubMed
24) Taylor WB, Anderson DE, Howell JB, et al. The nevoid basal cell carcinoma syndrome. Autopsy findings. Arch Dermatol 1968 ; 98 : 612-4.
PubMed

XXIII 人工皮膚炎と考えたとき忘れてはならない症候群

P.287 掲載の参考文献
1) Loveman AB. An unusual dermatosis following section of the fifth cranial nerve. Arch Dermatol Syph 1933 ; 28 : 369-75.
 
2) McKenzie KG. Observations on the results on the operative treatment of trigeminal neuralgia. Can Med Assoc 1933 ; 29 : 492-6.
PubMed
3) 木村恭一, 白井 求. Trigeminal Trophic Syndromeと思われる1例. 皮膚臨床 1986 ; 28 : 53-7.
 
4) Sadeghi P, Papay FA, Vidimos AT. Trigeminal trophic syndrome-report of four cases and review of the literature. Dermatol Surg 2004 ; 30 : 807-12.
PubMed
5) 渡邉昌彦, 東條玄一, 相葉節也. 帯状疱疹後に生じたTrigeminal trophic syndromeの1例. 皮膚臨床 2007 ; 49 : 522-3.
 
6) 松立吉弘, 飛田泰斗史, 安齋眞一, ほか. 脳梗塞後に左側鼻翼欠損をきたしたTrigeminal trophic syndromeの1例. 皮膚臨床 2009 ; 51 : 351-4.
 
7) Rashid RM, Khachemoune A. Trigeminal trophic syndrome. J Eur Acad Dermatol Venereol 2007 ; 21 : 725-31.
PubMed
8) Weintraub E, Soltani K, Hekmatpanah J, et al. Trigeminal trophic syndrome : a case and review. J Am Acad Dermatol 1982 ; 6 : 52-7.
PubMed
9) Bhushan M, Parry EJ, Telfer NR. Trigeminal trophic syndrome : successful treatment with carbamazepine. Br J Dermatol 1999 ; 141 : 758-9.
PubMed
10) Nakamizo S, Miyachi Y, Kabashima K. Treatment of neuropathic itch possibly due to trigeminal trophic syndrome with 0.1 % topical tacrolimus and gabapentin. Acta Derm Venereol 2010 ; 90 : 654-5.
 
11) Finlay AY. Trigeminal trophic syndrome. Arch Dermatol 1979 ; 115 : 1118.
PubMed
12) Kavanagh GM, Tidman MJ, Mclaren KM, et al. The trigeminal trophic syndrome : an under-recognized complication. Clin Exp Dermatol 1996 ; 21 : 299-301.
PubMed
13) Westerhof W, Bos JD. Trigeminal trophic syndrome : a successful treatment with transcutaneous electrical stimulation. Br J Dermatol 1983 ; 108 : 601-4.
PubMed
14) Fredeking AE, Silverman RA. Successful treatment of trigeminal trophic syndrome in a 6-year-old boy with negative pressure wound therapy. Arch Dermatol 2008 ; 144 : 984-6.
 
15) Kurien AM, Damian DL, Moloney FJ. Trigeminal trophic syndrome treated with thermoplastic occlusion. Australas J Dermatol 2011 ; 52 : e1-4.
PubMed
P.290 掲載の参考文献
1) 梶田直美, 杉浦一充, 澤田昌樹, ほか. ミュンヒハウゼン症候群による自傷行為で発症した壊死性筋膜炎の1例. 臨皮 2008 ; 62 : 991-4.
 
2) 金井貴夫. ミュンヒハウゼン症候群の臨床と治療. アディクションと家族 2010 ; 27 : 106-11.
 
3) 狩野葉子. 四肢上肢の紅色丘疹と結節. Visual Dermatology 2006 ; 5 : 901-2.
 
4) 塚崎直子, 大神太郎, 野中薫雄, ほか. Munchausen症候群. 西日皮膚 1991 ; 53 : 51-5.
 
5) 高野温子, 村上冨美子, 加藤聖, ほか. Munchhausen症候群の1例. 臨皮 1996 ; 38 : 1433-5.
 
6) 竹内千尋, 山下真之, 阿部澄乃, ほか. Weber-Christian病を疑わせたMunchhausen症候群の1例. 臨皮 1997 ; 39 : 637-40.
 
7) 兼古理恵, 斎藤和哉, 嵯峨賢次, ほか. ミュンヒハウゼン症候群の1例. 皮膚臨床 1998 ; 40 : 181-5.
 
8) 林伸和. 盲点となるへこみ 人為的へこみと腫瘍性へこみ 注射後脂肪織炎 (自傷症). Visual Dermatology 2005 ; 4 : 914-5.
 
9) Kohno M, Hasegawa H, Niiya H, et al. Munchausen syndrome with foreign-body granuloma mimicking rheumatic diseases. Mod Rheumatol 2004 ; 14 : 66-9.
PubMed
10) 池田政身, 佐藤仁吾, 山本康生, ほか. エーラス・ダンロス症候群を考えさせたMunchausen症候群. 皮膚病診療 1986 ; 8 : 853-6.
 
11) 伏見操, 岩崎加代子, 奥知三, ほか. Munchhausen症候群の1例. 臨皮 1995 ; 49 : 409-11.
 
12) 大原鐘敏, 中村潔, 棚橋慎治, ほか. Munchausen症候群を疑った埋入異物の1例. 形成外科 1994 ; 37 : 561-5.
 
13) 境徹也, 澄川耕二. ミュンヒハウゼン症候群の1症例. 日本ペインクリニック学会誌 2010 ; 17 : 21-4.
Medical*Online
14) 駒山徳明, 尾崎恭子, 山縣克之, ほか. 虚偽性障害を疑う不自然な両下肢の形状変化を伴う難治性疼痛の1症例. 日本ペインクリニック学会誌 2012 ; 19 : 426.
Medical*Online
15) 筒井紗也子, 伊達久, 滝口規子, ほか. CRPS を疑われたミュンヒハウゼン症候群の1例. 日本ペインクリニック学会誌 2011 ; 18 : 312.
Medical*Online
16) 岩崎雅, 塚本宏太郎, 堤邦彦, ほか. 持続睡眠療法が奏効したMunchhausen症候群の1例. 皮膚臨床 1989 ; 31 : 1281-5.
 
17) 土田哲也. 診療の秘訣 盲点となる皮膚病変 自傷症. Modern Physician 2006 ; 26 : 282.
 
P.294 掲載の参考文献
1) Caffey J. Multiple fractures in the long bones of infants suffering from chronic subdural hematomas. Am J Roentgenol 1946 ; 56 : 163-73.
 
2) Kempe CH, Silverman FN, Steele BF, et al. The battered-child syndrome. JAMA 1962 ; 181 : 17-24.
PubMed
3) Kempe CH, Silver HK, O'Brien D. Current Pediatric Diagnosis and Treatment. 2nd ed. Los Altos : Lange Medical Publications ; 1972. p764.
 
4) 厚生労働省. 平成21年度社会福祉行政業務報告結果の概況. 8. 児童福祉関係 (2) 児童相談所における児童虐待相談の対応件数. 2010. http://www.mhlw.go.jp/toukei/saikin/hw/gyousei/09/index.html
 
5) 恒成茂行. 被虐待児症候群. 玉置邦彦, ほか編. 最新皮膚科学大系 特別巻 1. 新生児・小児・高齢者の皮膚疾患. 東京 : 中山書店 ; 2004. pp198-205.
 
6) Darok M, Reischle S. Burn injuries caused by a hair-dryer-an unusual case of child abuse. Forensic Sci Int 2001 ; 115 : 143-6.
PubMed
7) 柳川敏彦, 小池通夫. 子どもの虐待-皮膚の傷からのアプローチ. 小児科 2003 ; 44 : 957-64.
 
8) 木下綾子, 須賀康, 鎌野マヤ, ほか. 皮膚症状をきっかけに発見された児童虐待の1例. 日小皮会誌 2008 ; 27 : 213-6.
 
9) 高木徹也, 佐藤喜宣. 死に至る児童虐待. 小児科 2010 ; 51 : 125-33.
 

書評

最近チェックした商品履歴

Loading...