BH02 Overcoming Genetic Drivers in Alopecia Areata: Hair Regrowth in a Patient with the AIRE Gene Mutation Treated with Ruxolitinib
June 2025
in “
British Journal of Dermatology
”
New to Alopecia Areata? There is a guide in the encyclopedia. Read the guide → Studysummary This study details a case of a 20-year-old woman with APECED syndrome and alopecia areata who experienced complete scalp hair regrowth and improved quality of life after nine months of ruxolitinib treatment, highlighting the drug's effectiveness for severe AA linked to AIRE gene mutation. Our plain-language summary of this paper — not a Tressless recommendation.
This study reports on a 20-year-old woman with alopecia universalis associated with APECED due to a biallelic AIRE gene mutation, who achieved complete hair regrowth after 9 months of treatment with ruxolitinib, a Janus kinase inhibitor. The patient initially presented with patchy hair loss, which progressed despite previous treatments. Ruxolitinib was administered primarily to address her chronic inflammatory demyelinating polyneuropathy (CIDP), but it also resulted in significant hair regrowth and improved quality of life. This case underscores the potential of ruxolitinib in treating severe alopecia areata linked to genetic mutations.