Tan Yidong, Yang Jinxiang, Chen Xuanyi, Shen Yihang, Wu Zhe, Zhou Weinan, Yao Zhirong, Zhao Jingjun, Liang Jianying
Department of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Front Med (Lausanne). 2025 Jul 22;12:1574656. doi: 10.3389/fmed.2025.1574656. eCollection 2025.
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 8-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 1 month and continued improvement over 8 months. This case suggests that KRT74 variants may contribute to immune dysregulation in alopecia areata, highlighting the potential role of JAK inhibitors in genetically predisposed alopecia cases.
斑秃是一种自身免疫性疾病，其特征为非瘢痕性脱发，遗传因素在疾病易感性中起重要作用。我们报告了一例8岁的全秃男孩，其携带杂合的KRT74变异。虽然他的母亲和哥哥也有这种变异，但他们并未出现脱发症状。免疫荧光分析显示，先证者头皮中JAK1-STAT1通路的磷酸化增加，T细胞浸润增多，主要是CD4辅助性T细胞。该患者对巴瑞替尼治疗（2毫克/天）反应良好，在1个月内毛发显著再生，并在8个月内持续改善。该病例表明，KRT74变异可能导致斑秃中的免疫失调，凸显了JAK抑制剂在遗传易感性斑秃病例中的潜在作用。
