遗传性少毛症分子遗传学研究进展  

Progress in Molecular Genetics of Hereditary Hypotrichosis

作　　者：曹巧玉 李明[1,2] CAO Qiaoyu;LI Ming(Institute of Dermatology,Shanghai Jiaotong University School of Medicine,Shanghai 200092,China;Departments of Dermatology,Xinhua Hospital,Shanghai 200092,China)

机构地区：[1]上海交通大学医学院附属新华医院皮肤科,上海200092 [2]上海交通大学医学院皮肤病研究所,上海200092

出　　处：《皮肤科学通报》2022年第2期96-101,M0002,M0003,共8页Dermatology Bulletin

摘　　要：遗传性少毛症是一种罕见的与遗传相关的毛发减少性疾病,主要表现为出生时或生后不久头皮或身体其他部位毛发持续性部分或完全缺失,毛发结构及生长周期异常。遗传性少毛症可由多种致病基因所致。按照遗传模式可分为常染色体显性遗传和常染色体隐性遗传。根据临床表现分为单纯性遗传性少毛症、遗传性羊毛状发以及念珠状发等。本文针对非综合征型的遗传性少毛症的临床表现和分子遗传学研究进展做一综述。Hereditary hypotrichosis is a rare genetically related hair loss disorder characterized by persistent partial or complete loss of hair on the scalp or other parts of the body at birth or shortly after birth,and abnormalities in hair structure and growth cycle.According to the mode of inheritance,it can be divided into autosomal dominant inheritance and autosomal recessive inheritance.According to clinical manifestations,it is divided into simple hereditary hypotrichosis,hereditary woolly hair and candid hair,including a variety of pathogenic genes.This article reviews the clinical manifestations and genetic research progress of non-syndromic hereditary hypotrichosis.

关 键 词：遗传性少毛症 单纯性遗传性少毛症 羊毛状发 念珠状发 分子遗传特点 

分 类 号：R758.71[医药卫生—皮肤病学与性病学]