Work

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome—clinical presentation of a newly described somatic, autoinflammatory syndrome

Year: 2021

Type: article

Abstract: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a newly described, acquired autoinflammatory syndrome that can often follow a severe and fatal course. This disorder is characterized by a somatic loss of function mutation affecting the UBA1 gene, resulting in the activation of the innate immune system and widespread systemic inflammation. Patients frequently present with cutaneous involvement, including neutrophilic dermatitis, vasculitis, and chondritis. The following case summarizes the characteristic features of this disease and highlights the importance of dermatology in recognizing patients with this condition, particularly given its progressive—and often refractory—nature.

Source: JAAD Case Reports

DOI: 10.1016/j.jdcr.2021.06.010