VEXAS syndrome with cutaneous nodules

Abstract

Recently, a rare severe autoinflammatory Vacuoles, E1 enzyme, X-linked, autoinflammatory, Somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene was discovered. The clinical features of VEXAS syndrome are heterogeneous, including high-grade fever, polychondritis and skin lesions. In 2020, Beck DB et al described an original cohort of 25 patients, of whom 22 (88%) had cutaneous findings, namely, neutrophilic dermatitis, and vasculitis. We report a case of VEXAS syndrome and cutaneous nodules with confirmed UBA1 mutation.

Keywords

• VEXAS, Autoinflmmation, cutaneous nodules