VEXAS Syndrome, A Novel Entity with Cutaneous Manifestations

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Authors

Akber Sheikh
Trevor Nessel, Corewell Health Resident
Nathanial Hansen, Corewell Health Resident
Michael Mahon, Corewell Health

Description

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

5-9-2024

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 2024 Alvin Yarrows Research Day; 2024 May 9; Farmington Hills, MI.

Comments

2024 Alvin Yarrows Research Day at Corewell Health Hospital Farmington Hills, Farmington Hills, MI, May 9, 2024.