VEXAS Syndrome, A Novel Entity with Cutaneous Manifestations

Files

Authors

Akber Sheikh
Trevor Nessel, Corewell Health East Resident
Nate Hansen, Corewell Health East Resident
Michael Mahon, Corewell Health East

Description

Introduction

▪ Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome: typically seen in older males > 50 years old.1

▪ 2/2 Somatic mutations in the UBA1 gene on the X chromosome -> decreased E1 ubiquitination.2

▪ Systemic inflammation, fever, bone marrow vacuolation (particularly affecting myeloid and erythroid precursor cells), elevated inflammatory markers, and cytopenias.1

▪ Hypercellular bone marrow -> macrocytic anemia and thrombocytopenia, potentially progressing to myelodysplastic syndrome (MDS), multiple myeloma (MM), or monoclonal gammopathy of undetermined significance (MGUS).2

▪ Skin is the most commonly affected organ; common dermatologic presentations: neutrophilic dermatosis, chondritis, vasculitis/vasculopathy, periorbital angioedema, and erythema nodosum.1

Publication Date

3-13-2025

Keywords

Vacuoles syndrome

Disciplines

Dermatology

Recommended Citation

Sheikh A, Nessel T, Hansen N, Mahon M. Vexas syndrome, a novel entity with cutaneous manifestations. Presented at Corewell Health Hospital Farmington Hills 2025 Alvin Yarrows Research Day; 2025 Mar13; Farmington Hills, MI.

Comments

2025 Alvin Yarrows Research Day at Corewell Health Hospital Farmington Hills, Farmington Hills, MI, March 13, 2025.