VEXAS syndrome in dermatology. Academic Article uri icon

Overview

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.

publication date

  • February 24, 2022

Research

keywords

  • Dermatology
  • Ubiquitin-Activating Enzymes

Identity

Scopus Document Identifier

  • 85125140050

Digital Object Identifier (DOI)

  • 10.1007/s00403-022-02340-4

PubMed ID

  • 35201420

Additional Document Info

volume

  • 315

issue

  • 2