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. 2023 Mar;315(2):161-164.
doi: 10.1007/s00403-022-02340-4. Epub 2022 Feb 24.

VEXAS syndrome in dermatology

Vince Afsahi  1 , Rachel E Christensen  2 , Murad Alam  3   4   5   6
Affiliations

VEXAS syndrome in dermatology

Vince Afsahi et al. Arch Dermatol Res. 2023 Mar.

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.

Keywords: Autoinflammatory; E1 enzyme; Mutation; Somatic; VEXAS; Vacuoles.

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References

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Supplementary concepts

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