先天性秃发先天性秃发/少毛症遗传学研究进展  

Advances of Congenital Alopecia/Hypotrichosis in Genetics Research

作　　者：崔璨 陈曦[1] 魏爱华[1] CUI Can;CHEN Xi;WEI Aihua(Department of Dermatology,Beijing Tongren Hospital,Capital Medical University,Beijing 100730,China)

机构地区：[1]首都医科大学附属北京同仁医院皮肤科,北京100730

出　　处：《罕见病研究》2023年第2期303-312,共10页Journal of Rare Diseases

基　　金：国家自然科学基金(82173447,82203951)。

摘　　要：先天性秃发/少毛症是一组罕见的单基因遗传性毛发疾病,主要临床特征为先天性毛发局限或弥漫性缺失、稀少,目前无任何有效治疗方法。基因检测明确致病性基因突变为确诊该类疾病的金标准。因该组疾病在临床特征与遗传方式上均存在一定的异质性,极易误诊误治为弥漫性斑秃或雄激素性秃发等后天性脱发疾病,因此临床医生应提高对该类疾病的认识。随着近年分子生物学技术的不断发展,迄今已鉴定出多种先天性秃发/少毛症的致病基因,并明确了其中部分基因及其相应亚型的发病机制。本文将以非综合征型先天性秃发/少毛症为研究对象,对其临床表现与遗传学研究进展进行综述,以便于临床医生全面了解该类毛发罕见病,提高临床诊治水平。Congenital alopecia/hypotrichosis is a rare group of monogenic genetic hair disorders charac⁃terized by congenital limited or diffuse hair loss and scarcity,without any effective treatment.Genetic testing to identify the causative gene mutation is the gold standard for confirming the diagnosis of this group of disorders.Because of the heterogeneity in clinical features and genetic pattern of this group of diseases,it is very easy to misdiagnose and mistreat them as diffuse baldness or androgenic alopecia and other acquired alopecia,so clini⁃cians should improve their understanding of this group of diseases.With the continuous development of molecu⁃lar biology techniques in recent years,a variety of causative genes for congenital alopecia/hypotrichosis have been identified so far,and the pathogenesis of some of these genes and their corresponding subtypes have been clarified.In this paper,we reviewed the clinical manifestations and genetic research progress of non⁃syndromic congenital alopecia/hypotrichosis,in order to facilitate clinicians􀆳comprehensive understanding of these rare hair diseases and improve clinical diagnosis and treatment.

关 键 词：先天性秃发 先天性少毛症 遗传性单纯少毛症 

分 类 号：R75[医药卫生—皮肤病学与性病学] Q39[医药卫生—临床医学]