Open AccessVEXAS syndrome with cutaneous nodules
Author(s) -
Yahya Argobi
Publication year - 2021
Publication title -
dermatology reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.183
H-Index - 10
eISSN - 2036-7406
pISSN - 2036-7392
DOI - 10.4081/dr.2022.9414
Subject(s) - medicine , dermatology , pathology , vasculitis , disease
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.