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BRAIN and NERVE Volume 71, Issue 4 （April 2019）

BRAIN and NERVE 71巻4号（2019年4月発行）

Japanese English

増大特集神経学のための皮膚アトラス

コケイン症候群 Cockayne Syndrome 森脇真一 ¹ Shinichi Moriwaki ¹ ¹大阪医科大学皮膚科学教室 ¹Department of Dermatology, Osaka Medical College キーワード：コケイン症候群 , 色素性乾皮症 , 転写共益ヌクレオチド除去修復 , 光線過敏症 , 悪液質小人症 , 網膜色素変性 , Cockayne syndrome , xeroderma pigmentosum , transcription-coupled nucleotide excision repair , photosensitivity , cachectic dwarfism , pigmentary degeneration of the retina Keyword: コケイン症候群 , 色素性乾皮症 , 転写共益ヌクレオチド除去修復 , 光線過敏症 , 悪液質小人症 , 網膜色素変性 , Cockayne syndrome , xeroderma pigmentosum , transcription-coupled nucleotide excision repair , photosensitivity , cachectic dwarfism , pigmentary degeneration of the retina pp.390-393

発行日 2019年4月1日 Published Date 2019/4/1

DOI https://doi.org/10.11477/mf.1416201282

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Abstract 文献概要
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参考文献 Reference

コケイン症候群（CS）は紫外線性DNA損傷の転写共益修復異常で発症する重篤な光線過敏症である。特異な老人様顔貌，発育障害，視力障害，難聴を伴い，臨床的にⅠ型（古典型），Ⅱ型（重症型），Ⅲ型（遅発型），色素性乾皮症合併型（XP/CS）の4型に分類される。本邦頻度は2.7/100万人，90％はⅠ型である。CSでは露光部皮膚癌は生じないとされてきたが，最近Ⅲ型CSで皮膚癌が多発した症例が報告された。一方，XP/CSでは幼児期から露光部皮膚癌が生じやすい。

Abstract

Cockayne syndrome (CS) is an autosomal recessive disorder characterized by severe photosensitive genodermatosis that is associated with premature aging caused by defects in the UV-induced DNA damage repair system, particularly the transcription-coupled nucleotide excision repair. The clinical features of CS include photosensitivity, a characteristic senile face, significant developmental abnormalities, such as short stature, underweight, and microcephaly, progressive cachexia, severe visual impairment, and sensorineural deafness. CS is clinically classified into type I (classical type), type II (congenital or severe type) and type III (late-onset or adult-onset type). Additionally, there exists a rare form of xerodema pigmentosum-Cockayne syndrome (XP/CS) complex. The incidence of CS is 2.7 in 1,000,000 individuals in Japan and 90% of the cases are type I. Unlike XP, in CS, skin cancer is not known to occur in areas of skin exposed to sunlight. However, we observed a case where solar keratosis developed in adult-onset CS patients (CS type III) with a pathological mutation in the CSB gene. In XP/CS, patients easily develop skin cancer from early childhood in areas of the skin exposed to sunlight.