Tofacitinib Treatment of Inflammatory Skin Conditions in Patients With Down Syndrome

    July 2022 in “ ˜The œjournal of investigative dermatology/Journal of investigative dermatology ”
    Cory A. Dunnick, A. Rachubinski, B. Enriquez-Estrada, K. Worek, M. Galbraith, K. Smith, A. Hill, E. Gurnee, E. Wallace, D. Norris, J. Espinosa
    From the encyclopedia
    Tofacitinib →

    a JAK inhibitor for alopecia areata and other autoimmune conditions

    Alopecia Areata →

    autoimmune disorder causing patchy hair loss

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    Studysummary In this open-label trial, Tofacitinib was well tolerated and improved IFN and cytokine scores, as well as overall skin pathology, in individuals with Down syndrome and immune skin conditions. Our plain-language summary of this paper — not a Tressless recommendation.
    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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