摘要
先天性秃发/少毛症是一组临床罕见的单基因遗传性毛发疾病,临床表现为出生时或出生后不久出现的毛发弥漫性或局限性的缺失或稀少,可单独发病,也可作为其它遗传性疾病或综合征的临床表现之一。该组疾病的临床特征、遗传方式和遗传基础均存在异质性,临床准确诊断较为困难。随着分子生物学技术的发展,越来越多的致病基因被发现,为确定诊断、明确发病机制和预防后代发病奠定了基础。本文从临床表现及诊断思路方面对先天性秃发/少毛症进行分类,并结合相应遗传学研究进行综述。
Congenital alopecia or hypotrichosis is a group of rare congenital monogenic hair loss disorders. Affected individual shows diffuse or local absence or sparse of hair at birth or soon after birth. It could be syndromic and non-syndromic. Great clinical heterogeneity and genetic heterogeneity have been reported. In recent years more and more causative genes have been identified responsible for these disorders,which could be helpful in accurate diagnosis,exploration of pathogenesis,genetic counseling and prenatal diagnosis.
出处
《中国医学文摘（皮肤科学）》
2016年第4期445-449,6,共5页
China Medical Abstracts(Dermatology)
基金
国家自然科学基金青年项目(81201221)
关键词
先天性秃发
少毛症
基因
综述
Congenital alopecia
Hypotrichosis
Gene
Review
