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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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-07-01
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| Series: | Frontiers in Medicine |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2025.1574656/full |
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| Summary: | 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. |
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| ISSN: | 2296-858X |