China Journal of Leprosy and Skin Diseases ›› 2026, Vol. 42 ›› Issue (7): 505-508.doi: 10.12144/zgmfskin202607505

• Original Articles • Previous Articles     Next Articles

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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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