遗传性对称性色素异常症并家系调查  

Dyschromatosis Symmetrica Hereditaria and Their Families

作　　者：李倩男[1] 孔祥君[2] 韦伟[1] 金可[3] 周璟[3] 张峻岭[2] 

机构地区：[1]天津中医药大学,天津300193 [2]天津市中医药研究院附属医院,天津300120 [3]天津医科大学研究生院,天津300070

出　　处：《中国皮肤性病学杂志》2016年第7期719-721,共3页The Chinese Journal of Dermatovenereology

摘　　要：遗传性对称性色素异常症是一种以对称性散布于双手背、足背雀斑样色素沉着斑及色素减退斑为主要表现的常染色体显性遗传病。本次报道3个家系,家系1中三代均有患病;家系二出现隔代遗传,先证者伴有面部雀斑样色素沉着斑;家系三为单发病例,家族中其他人员未患本病。3名先证者在共聚焦激光扫描显微镜下观察到白斑区基底层色素不同程度减少及色素环不完整或缺失,色素沉着斑处基底层色素增加,家系2和家系3先证者皮肤镜下部分皮疹可见网状及片状色素结构。Dyschromatosis symmetrica hereditaria is a kind of autosomal dominant disease, its symptoms are mixed hyperpigmented and hypopigmented macules on the dorsal aspect of the hands and feet. This article reported three families ： not all people but each generation of the first family got DSH ; atavistic heredity were found in the second family whose proband appeared with freckle-like macules; only the proband of the third family was diagnosed with DSH and we called it sporadic case. The confocal laser scanning microscopic of three probands showed that decreased melanin and incomplete or missing dermal papillary rings reflected in the basal layer of the hypopigmented macules while increased melanin happened to the hyperpigmented macules on different degrees. Reticular and flake pigment structure could be observed in partial lesions of probands from the second and third families with dermoscopy.

关 键 词：遗传性对称性色素异常症 共聚焦扫描显微镜 皮肤镜 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]