Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome

VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome is an inflammatory disorder with hematological and systemic features. A recent study demonstrated that the dermal infiltrate in neutrophilic dermatosis from VEXAS patients is derived from the pathological UBA1-mutated myeloid clone. Neutrophilic dermatosis is, however, only one of the various skin involvements observed in VEXAS syndrome. We analyzed 10 formalin-fixed paraffin-embedded skin biopsies from genetically confirmed VEXAS syndrome. UBA1 mutation was found in the biopsies related to neutrophilic dermatitis but in none of the other histological patterns (leukocytoclastic vasculitis and septal panniculitis). This could lead to a distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome, which could in turn improve therapeutic outcomes.

Automated summary

VEXAS syndrome is an inflammatory disorder with hematological and systemic features, and various skin involvements, including neutrophilic dermatitis, leukocytoclastic vasculitis, and septal panniculitis. A study found UBA1 gene mutation in skin biopsies related to neutrophilic dermatitis, which could distinguish clonal from paraclonal cutaneous involvements and improve therapeutic outcomes.