CASE REPORT article
Front. Med.
Sec. Dermatology
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1574656
This article is part of the Research TopicExploring Innovative Therapies for Rare Inflammatory Skin DiseasesView all 10 articles
A Novel KRT74 Variant in an Eight-Year-Old Boy with Alopecia Totalis Successfully Treated with Baricitinib
Provisionally accepted
YiDONG Tan
Jinxiang Yang
Xuanyi Chen
Yihang Shen
Zhe Wu
Weinan ZhouZhirong Yao
Jingjun Zhao
Jianying Liang*- Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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Alopecia areata is an autoimmune condition characterized by non-scarring hair loss, with genetic factors playing a significant role in disease susceptibility. We report the case of an eight-year-old boy with alopecia totalis harboring a heterozygous KRT74 variant. While his mother and brother share this variant, they do not exhibit alopecia.Immunofluorescence analysis revealed increased phosphorylation of the JAK1-STAT1 pathway and elevated T cell infiltration, predominantly CD4 + T helper cells, in the proband's scalp. The patient responded favorably to baricitinib treatment (2 mg/day), showing significant hair regrowth within one month and continued improvement over eight months. This case suggests that KRT74 variants may contribute to immune dysregulation in alopecia areata, highlighting the potential role of JAKinhibitors in genetically predisposed alopecia cases.
Keywords: Alopecia totalis, KRT74 variant, JAK1-STAT1 pathway, leukonychia, Baricitinib
Received: 11 Feb 2025; Accepted: 30 Jun 2025.
Copyright: © 2025 Tan, Yang, Chen, Shen, Wu, Zhou, Yao, Zhao and Liang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Jianying Liang, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
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