局灶性真皮发育不全综合征1例  

A Case of Focal Dermal Hypoplasia

作　　者：惠海英[1] 王俊民[1] 王香兰[1] 刘平[1] 袁景奕[1] 任建文[1] 李俊杰[1] 李政霄[1] 

机构地区：[1]西安交通大学第二医院皮肤科,陕西西安710004

出　　处：《中国皮肤性病学杂志》2005年第3期168-170,共3页The Chinese Journal of Dermatovenereology

摘　　要：局灶性真皮发育不全综合征是一种罕见的遗传性皮肤病,其特征是进行性皮肤缺失,引起真皮发育不全,出现线状皮损,真皮层可见脂肪组织。报道1例女性患儿, 1岁10个月大小。其出生就出现典型的皮肤改变,如沿Bl aschko’s线排列的皮肤菲薄区域、脂肪疝、网状色素斑、脐疝及乳头状瘤样皮损,另外还伴有头发、牙齿、指(趾)甲等异常改变。本文在复习部分文献的基础上,对本病的发病、临床表现及诊断等进行了讨论。Focal dermal hypoplasia is a rare genodermatosis characterized by developmental defects of the skin, resulting in widespread linear lesions of dermal hypoplasia with adipose tissue in the dermis. We described a 22 month old girl who had typical cutaneous lesions,for instance , atrophic areas along Blaschko lines, fat herniations, reticulated pattern,hilum hernia and papillomatous lesions ,which have been present since birth; she also has some of the associated hair,dental, nail abnormalities.The literature were reviewed and this syndrome, particularly with regard to pathogenesis ,clinical manifestation and diagnosis is discussed.

关 键 词：局灶性真皮发育不全综合征 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]