中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (7): 505-508.doi: 10.12144/zgmfskin202607505

• 论著 • 上一篇    下一篇

念珠状发KRT86基因突变检测与分析

傅诗淇1，2,张明爽3,李娟4,薛强东1,周荣华1,李青1,阳芳3   

  1. 1深圳市人民医院皮肤科，南方科技大学第一附属医院，暨南大学第二临床医学院，广东深圳，518020；2南方科技大学医学院，广东深圳，518055；3深圳市第三人民医院皮肤科，广东深圳，518112；4北京市海淀区妇幼保健院皮肤科，北京，100008
  • 出版日期:2026-07-15 发布日期:2026-06-29

Detection and analysis of KRT86 gene mutations in patients with monilethrix

FU Shiqi1,2, ZHANG Mingshuang3, LI Juan4, XUE Qiangdong1, ZHOU Ronghua1, LI Qing1, YANG Fang3   

  1. 1 Department of Dermatology, Shenzhen People's Hospital, the First Affiliated Hospital of Southern University of Science and Technology, the Second Clinical Medical College of Jinan University, Shenzhen 518020, China; 2 School of Medicine, Southern University of Science and Technology, Shenzhen 518055, China; 3 Department of Dermatology, Shenzhen Third People's Hospital, Shenzhen 518112, China; 4 Department of Dermatology, Haidian District Maternal and Child Health Hospital, Beijing 100008, China
  • Online:2026-07-15 Published:2026-06-29

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摘要： 念珠状发是一种先天性毛干结构异常的遗传性疾病，典型临床特征为毛干梭形膨大与狭窄区规律性交替出现，呈现念珠状外观。本文报道2例KRT86基因突变的念珠状发患者。2例患者均行全外显子组高通量测序，结果示KRT86基因发生c.1204G＞A杂合错义突变(p.E402K)。患者1给予5%米诺地尔酊外用治疗，一年后，头发密度和毛干质量好转，长期疗效有待进一步随访观察。患者2治疗意愿不强烈，未给予治疗。

关键词: 念珠状发, KRT86基因, 全外显子组测序

Abstract: Monilethrix is a congenital hereditary disorder characterized by structural abnormalities of the hair shaft, where spindle-shaped swellings alternate regularly with narrow constrictions, resulting in a beaded appearance. This study reports two cases of monilethrix caused by KRT86 gene mutations. Whole-exome sequencing showed both patients carried a heterozygous missense mutation c.1204G＞A in KRT86 gene(p.E402K). Patient 1 was treated with topical 5% minoxidil tincture for one year, after which hair density and hair shaft quality improved, however, long-term efficacy requires further follow-up. Patient 2 had a low motivation for treatment and received no treatment.

Key words: monilethrix, KRT86 gene, whole-exome sequencing