Skin Manifestations of VEXAS Syndrome and Associated Genotypes May Aid in Quicker Diagnosis

Description

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an often-deadly inflammatory condition caused by mutations in the UBA1 gene of blood cells. Investigators found distinct skin symptoms were linked to specific gene variants in people with the disease.

A team of researchers in the Dermatology Consultation Service analyzed tissue samples from 60 of 112 study participants who were referred to the NIH Clinical Center in Bethesda, MD, for suspected VEXAS syndrome. The most reported findings included inflammation of the small blood vessels of the skin, known as leukocystoclastic vasculitis, fever and a painful rash known as neutrophilic dermatosis, and inflammation of the skin around the blood vessels, known as perivascular dermatitis.

What is exciting about this article?

Although, symptoms of the syndrome can vary and tend to mimic other inflammatory conditions, most of the skin biopsies revealed a distinct pattern called histiocytoid dermal neutrophilic inflammation, which is sometimes seen in patients with Sweet syndrome, a rare inflammatory skin disease. This pattern, when combined with leukocytoclasia, may prove useful to a potential diagnosis of VEXAS. 

Further, the linking of genotype with phenotype may also help identify distinct patterns of disease, which may facilitate a quicker diagnosis and help inform overall prognosis. Although VEXAS may be newly discovered, it is not exceedingly rare, and this study should help guide clinicians in recognizing some cardinal features of the disease in skin.

Grant support

ZIA AR041229