VEXAS syndrome with cutaneous nodules

Yahya Argobi

doi:10.4081/dr.2022.9414

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.

Beck DB, Ferrada MA, Sikora KA, et al. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med 2020;383:2628-38.

van der Made CI, Potjewijd J, Hoogstins A, et al. Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS. J Allergy Clin Immunol 2021:S0091-6749.

Zakine E, Schell B, Battistella M, et al. UBA1 Variations in Neutrophilic Dermatosis Skin Lesions of Patients With VEXAS Syndrome. JAMA Dermatol 2021:e213344.

Georgin-Lavialle S, Terrier B, Guedon AF, et al. Further characterization of clinical and laboratory features occurring in VEXAS syndrome in a largescale analysis of multicenter case-series of 116 French patients. Br J Dermatol. 2021. Online ahead of print.

Argobi, Y. (2021). VEXAS syndrome with cutaneous nodules. Dermatology Reports, 14(2). https://doi.org/10.4081/dr.2022.9414