Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib
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...
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Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Medicine |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2025.1574656/full |
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| author | Yidong Tan Yidong Tan Jinxiang Yang Jinxiang Yang Xuanyi Chen Xuanyi Chen Yihang Shen Yihang Shen Zhe Wu Zhe Wu Weinan Zhou Weinan Zhou Zhirong Yao Zhirong Yao Jingjun Zhao Jingjun Zhao Jianying Liang Jianying Liang |
| author_facet | Yidong Tan Yidong Tan Jinxiang Yang Jinxiang Yang Xuanyi Chen Xuanyi Chen Yihang Shen Yihang Shen Zhe Wu Zhe Wu Weinan Zhou Weinan Zhou Zhirong Yao Zhirong Yao Jingjun Zhao Jingjun Zhao Jianying Liang Jianying Liang |
| author_sort | Yidong Tan |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e53e4b03dcc0410da08a9a6c94102cb9 |
| institution | Kabale University |
| issn | 2296-858X |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Medicine |
| spelling | doaj-art-e53e4b03dcc0410da08a9a6c94102cb92025-08-20T03:51:08ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2025-07-011210.3389/fmed.2025.15746561574656Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinibYidong Tan0Yidong Tan1Jinxiang Yang2Jinxiang Yang3Xuanyi Chen4Xuanyi Chen5Yihang Shen6Yihang Shen7Zhe Wu8Zhe Wu9Weinan Zhou10Weinan Zhou11Zhirong Yao12Zhirong Yao13Jingjun Zhao14Jingjun Zhao15Jianying Liang16Jianying Liang17Department of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaInstitute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, ChinaDepartment of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaInstitute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, ChinaDepartment of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaInstitute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, ChinaDepartment of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaInstitute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, ChinaDepartment of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaInstitute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, ChinaDepartment of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaInstitute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, ChinaDepartment of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaInstitute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, ChinaDepartment of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaInstitute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, ChinaDepartment of Dermatology, Shanghai Jiao Tong University School of Medicine, Shanghai, ChinaInstitute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai, ChinaAlopecia 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.https://www.frontiersin.org/articles/10.3389/fmed.2025.1574656/fullalopecia totalisKRT74 variantJAK1-STAT1 pathwayleukonychiabaricitinib |
| spellingShingle | Yidong Tan Yidong Tan Jinxiang Yang Jinxiang Yang Xuanyi Chen Xuanyi Chen Yihang Shen Yihang Shen Zhe Wu Zhe Wu Weinan Zhou Weinan Zhou Zhirong Yao Zhirong Yao Jingjun Zhao Jingjun Zhao Jianying Liang Jianying Liang Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib Frontiers in Medicine alopecia totalis KRT74 variant JAK1-STAT1 pathway leukonychia baricitinib |
| title | Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib |
| title_full | Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib |
| title_fullStr | Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib |
| title_full_unstemmed | Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib |
| title_short | Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib |
| title_sort | case report a novel krt74 variant in an eight year old boy with alopecia totalis successfully treated with baricitinib |
| topic | alopecia totalis KRT74 variant JAK1-STAT1 pathway leukonychia baricitinib |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2025.1574656/full |
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