{Reference Type}: Journal Article
{Title}: VEXAS syndrome in dermatology.
{Author}: Afsahi V;Christensen RE;Alam M;
{Journal}: Arch Dermatol Res
{Volume}: 315
{Issue}: 2
{Year}: Mar 2023
{Factor}: 3.033
{DOI}: 10.1007/s00403-022-02340-4
{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.