Tofacitinib Treatment of Inflammatory Skin Conditions in Patients With Down Syndrome

    Cory A. Dunnick, A. Rachubinski, B. Enriquez-Estrada, K. Worek, M. Galbraith, K. Smith, A. Hill, E. Gurnee, E. Wallace, D. Norris, J. Espinosa
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    TLDR Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
    Individuals with Down syndrome (DS) often experience immune skin conditions due to hyperactive interferon (IFN) responses and JAK/STAT signaling. An open-label clinical trial tested the JAK inhibitor Tofacitinib in 10 participants with DS aged 12-50, who had moderate-to-severe alopecia areata (AA), hidradenitis suppurativa (HS), psoriasis, atopic dermatitis, and/or vitiligo. Participants received 5 mg of Tofacitinib twice daily for 16 weeks. The treatment was well tolerated, significantly reducing IFN and cytokine scores (p<0.05). Skin pathology improved in 7 of 10 participants, with 5 of 6 AA patients showing hair regrowth. Tofacitinib is a promising treatment for DS-related immune skin conditions, particularly AA, though further research is needed for HS.
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