Tofacitinib Treatment of Inflammatory Skin Conditions in Patients With Down Syndrome

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.