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    Case Report: A Novel KRT74 Variant in an Eight-Year-Old Boy with Alopecia Totalis Successfully Treated with Baricitinib

    July 2025 in “ Frontiers in Medicine ”
    Yidong Tan, Jinxiang Yang, Xuanyi Chen … Jianying Liang
    Studysummary In this case study, an 8-year-old boy with alopecia totalis experienced significant hair regrowth after baricitinib treatment, suggesting KRT74 variants may influence immune dysregulation in this condition.
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    Research cited in this study 15

    1. JAK-STAT1 as Therapeutic Target for EGFR Deficiency-Associated Inflammation and Scarring Alopecia EMBO Molecular Medicine · 2024
    2. Dupilumab Induces Hair Regrowth in Pediatric Alopecia Areata: A Real-World, Single-Center Observational Study Archives of Dermatological Research · 2024
    3. Deciphering the Complex Immunopathogenesis of Alopecia Areata International Journal of Molecular Sciences · 2024
    4. Efficacy and Safety of Ritlecitinib in Adults and Adolescents With Alopecia Areata: A Randomised, Double-Blind, Multicentre, Phase 2b–3 Trial The Lancet · 2023
    5. Two Phase 3 Trials of Baricitinib for Alopecia Areata The New England Journal of Medicine · 2022
    6. Hair Follicle Immune Privilege and Its Collapse in Alopecia Areata Experimental dermatology · 2020
    7. Is Methotrexate an Effective and Safe Treatment for Maintaining Hair Regrowth in People with Alopecia Totalis? A Critically Appraised Topic British journal of dermatology/British journal of dermatology, Supplement · 2018
    8. Biomarkers of Alopecia Areata Disease Activity and Response to Corticosteroid Treatment Experimental dermatology · 2015
    9. Alopecia Areata Is Driven by Cytotoxic T Lymphocytes and Is Reversed by JAK Inhibition Nature medicine · 2014
    10. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014
    11. A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012
    12. Alopecia Areata: An Autoimmune Disease Causing Hair Loss The New England Journal of Medicine · 2012
    13. Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families Human Genetics · 2010
    14. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010
    15. Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics · 2007