VEXAS syndrome in dermatology.

Abstract

Vacuoles, E1 enzyme, x-linked, autoinflammatory, and somatic mutation (VEXAS) syndrome is a recently described disease associated with high morbidity and mortality. VEXAS syndrome results from a somatic mutation affecting UBA1, a gene that codes for the E1 ubiquitin activating protein. Loss of UBA1 leads to a broad range of inflammatory conditions and a clinical course often refractive to therapy. We present the cases of two patients who demonstrated a rapid decline in overall health, decreased energy, arthralgias, anemia, fever, increased inflammatory markers, and characteristic bone marrow. Importantly, dermatologic assessment revealed skin biopsy findings of medium-vessel vasculitis and neutrophilic infiltration. Following blood analysis, both patients were diagnosed with VEXAS syndrome resulting from a mutation in the UBA1 gene. Our report highlights the pivotal role dermatologists have in early diagnosis of patients with VEXAS syndrome.