常染色体隐性遗传性羊毛状发的不寻常临床表现
Unusual Clinical Presentation of Autosomal Recessive Woolly Hair.
作者信息
Alsharif Osama, Ahmed Azhar Abbas, Alali Azhar Mohammed, Kaki Adnan Ahmed
机构信息
Department of Dermatology, Ministry of Health, King Fahad General Hospital, Madinah, Saudi Arabia.
出版信息
Skin Appendage Disord. 2020 Mar;6(2):120-122. doi: 10.1159/000505134. Epub 2020 Jan 17.
Abstract
Autosomal recessive woolly hair/hypotrichosis (ARWH/H) is a rare nonsyndromic hair abnormality characterized by sparse, short, and curly hair. we report a case of a 5-year-old girl from consanguineous parents, who presented with ARWH/H since birth. Dermoscopic findings showed thin sparse hair. Genetic testing showed homozygous mutation in the gene.
摘要
常染色体隐性遗传性羊毛状发/毛发稀少症（ARWH/H）是一种罕见的非综合征性毛发异常，其特征为头发稀疏、短小且卷曲。我们报告一例来自近亲结婚父母的5岁女孩，自出生以来就患有ARWH/H。皮肤镜检查结果显示毛发稀疏纤细。基因检测显示该基因存在纯合突变。
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