中国麻风皮肤病杂志 ›› 2017, Vol. 33 ›› Issue (5): 290-292.

• 论著 • 上一篇    下一篇

念珠状发四例

朱晨雨  刘洁  付兰芹  李军   晋红中   

  1. 中国医学科学院 北京协和医学院 北京协和医院皮肤科，北京，100730
  • 出版日期:2017-05-15 发布日期:2018-12-19
  • 通讯作者: 刘洁，E-mail: liujie04672@pumch.cn

Monilethrix: four cases report

ZHU Chenyu, LIU Jie, FU Lanqin, LI Jun, JIN Hongzhong.   

  1. Department of Dermatology, Peking Union Medical College Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100730,China
  • Online:2017-05-15 Published:2018-12-19
  • Contact: LIU Jie, E-mail: liujie04672@pumch.cn

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摘要： 念珠状发是一种常染色体显性遗传性皮肤病，以毛干和毛囊结构异常为特征。本文报道4例，均表现为头发易折断，生长缓慢，其中3例有家族史。4例患者皮肤镜检查均可见梭形膨大和明显缩窄交替出现的典型念珠状改变。有2例患者进行了KRT86基因检测，分别检测到c.1204G＞A和c.1237G＞A的突变。

关键词: 念珠状发, KRT86基因, 皮肤镜

Abstract: Monilethrix is an autosomal dominant genodermatosis with hair shafts and hair follicles abnormal. We reported 4 cases with monilethrix and all presented with hair fragility, keratosis pilaris and poor growth. Out of 4 patients, 3 had family histories of monilethrix. Dermoscopy of the hair shaft showed elliptical nodes separated by narrower internodes in all patients. Mutations of c.1204G＞A and c.1237G＞A in KRT86 gene were detected in the two patients respectively. 

Key words: monilethrix, KRT86 gene, dermascopy