先天性无汗性外胚叶发育不良1例  

A Case of Congenital Anhidrotic Ectodermal Dysplasia

作　　者：张跃[1] 袁伟 贾常莎 

机构地区：[1]遵义市妇幼保健院皮肤科,贵州遵义563099 [2]遵义学院附属医院皮肤科,贵州遵义563099

出　　处：《中国皮肤性病学杂志》2015年第10期1070-1071,共2页The Chinese Journal of Dermatovenereology

摘　　要：患儿男,8岁。出生至今无汗,怕热,无牙。其毛发稀疏、干枯,额部凸出,眼周有放射状皱纹,马鞍鼻,唇厚外翘,呈苍老貌。皮损病理示真皮层内未见汗腺。诊断:先天性无汗性外胚叶发育不良。A case of congenital anhidrotic ectodermal dysplasia is reported. An 8-year-old boy was unable to sweat since birth, which resulted in reduced ability to endure heat. He presented with absence of teeth, sparse dull hair, frontal bossing, periorbital radiate wrinkling, saddle nose, and full everted lips. The facial appearance looks like an old man. Skin biopsy revealed sweat glands loss in the dermis. The diagnosis was congenital anhidrotic ectodermal dysplasia.

关 键 词：先天性外胚叶发育不良 无汗性 

分 类 号：R722.11[医药卫生—儿科]