有汗性外胚层发育不良临床及遗传特点分析  

Congenital hidrotic ectodermal dysplasia: clinical and genetic features

作　　者：陈建军[1] 杨森[1] 崔勇[1] 梁燕华[1] 董普玲[1] 张学军[1] 

机构地区：[1]安徽医科大学皮肤病研究所,第一附属医院皮肤科,合肥230022

出　　处：《安徽医科大学学报》2002年第6期461-464,共4页Acta Universitatis Medicinalis Anhui

基　　金：国家十五 86 3计划课题基金资助 (编号 2 0 0 1AA2 2 70 31)

摘　　要：目的　了解中国人有汗性外胚层发育不良 (HED)的临床表现和遗传特点。方法　对近 2 0年来国内报道的HED家系进行系统的临床和遗传特点分析。结果　①HED遗传方式为常染色体显性遗传 ;②中国人HED的典型临床表现为甲发育不良、毛发缺陷、掌跖角化 (或牙齿发育不良 )三联症 ;患者在出生时或婴幼期发病 ;③同一家系中不同的患者表现度不同 ;④家系Ⅲ出现“不规则显性”情况 ;⑤除家系Ⅱ患者伴先天性鱼鳞病样红皮病及先天性白内障及家系Ⅶ中先证者伴有癫痫以外 ,其它家系基本不伴发其他疾病 ;⑥除遗传之外可能是妊娠期亲代一方生殖细胞成熟过程中发生基因突变有关 ;⑦家系的报道以小家系多见 ,一些家系中男女患病的比例不等。结论　HED是一种高度外显率的常染色体显性遗传病 ,临床表现是以甲发育不良、毛发缺陷、掌跖角化过度 (或牙齿发育不良 )三联症为特征 ,可合并其他症状 ,临床表现具有多样性。Objective To study clinical and genetic features of hidrotic ectodermal dysplasia (HED) in Chinese.Methods The clinical and genetic features of HED were studied by reviewing HED pedigrees reported in the last twenty years. Results ①The pattern of inheritance was autosomal dominant; ②It was characterized by dysplastic nails in hands and feet, alopecia, and hyperderatosis of the palms and soles (or tooth dystrophy). These appeared at birth or during childhood; ③Clinical manifestations varied in different patients of the same family; ④Family Ⅲ showed an irregular dominance; ⑤Although patients with HED of family Ⅱ were also affected by congenital ichthyosiform ergthroderma and congenital cataract and the foreboding patients of family Ⅶ suffered epilepsy, HED patients of other families did not have these features; ⑥In addition to genetic factors, the gene mutation of maturing germ cells of the pregnant mother might also be related to HED; ⑦Most of the reported pedigrees were small and the proportion of males to females in some pedigrees was not 1∶1. Conclusion HED is a genodermatosis transmitted with complete penetrance. The clinical feature varies and is characterized by the triplex syndrome including nail dystrophy, hair defect, and palmmoplantar hyperkeratosis (or tooth dystrophy).

关 键 词：外胚层发育不良 遗传学 系谱 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]