VEXAS syndrome often shows up on the skin first — but it still takes nearly 3 years to diagnose. A UK study found that 88% of VEXAS patients had skin involvement, and in 65% it was among the very first symptoms. Dermatologists are being urged to think of VEXAS in older men with stubborn skin conditions and unexplained blood abnormalities.
VEXAS syndrome — a rare, serious autoinflammatory condition — is leaving its earliest clues on the skin, yet patients are still waiting nearly three years for a diagnosis. A UK study of 43 men with genetically confirmed VEXAS found that 88% had skin involvement, and in 65% of cases, skin signs were among the presenting features. Despite this, the mean diagnostic delay was 2.7 years, and six patients had died by the last follow-up.
The most common skin manifestations were Sweet syndrome-like neutrophilic dermatosis (40%) and cutaneous vasculitis (21%), often accompanied by orbital inflammation and auricular chondritis. The majority of patients also had underlying myelodysplastic syndrome (67%) and macrocytic anemia (65%). Skin biopsies showed a dense neutrophilic infiltrate that can be mistaken for a histiocytic or granulomatous process without specialized staining.
By the Numbers:
Why it matters: Dermatologists are often the first clinicians to see VEXAS patients, making early recognition critical. Prompt UBA1 genetic testing in older men with refractory skin conditions and unexplained cytopenias could significantly cut diagnostic delays and improve outcomes.
