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- Title
VEXAS syndrome with cutaneous nodules.
- Authors
Argobi, Yahya
- 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 highgrade 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.
- Subjects
SYNDROMES; GENETIC variation; VASCULITIS
- Publication
Dermatology Reports, 2022, Vol 14, Issue 2, p52
- ISSN
2036-7406
- Publication type
Case Study
- DOI
10.4081/dr.2022.9414