VEXAS-Syndrome, a newly described autoinflammatory systemic disease with dermatologic manifestations

Baur V, Stoevesandt J, Hueber A, Hüffmeier U, Kneitz H, Morbach H, Schultz E, Goebeler M (2023)

Publication Type: Journal article, Review article

Publication year: 2023

Journal

Journal der Deutschen Dermatologischen Gesellschaft Wiley-Blackwell

DOI: 10.1111/ddg.15227

Abstract

VEXAS syndrome is a recently identified autoinflammatory systemic disease caused by an acquired somatic mutation of the X-linked UBA1 gene, the key enzyme of the first step of ubiquitylation. The acronym VEXAS stands for the characteristics Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic. The disease occurs in advanced adulthood preferentially in men and is characterized by hematological, rheumatological and dermatological symptoms. The latter include neutrophil-rich lesions reminiscent of Sweet's syndrome, erythema nodosum- and panniculitis-like skin manifestations and recurrent polychondritis of the nose and auricles. The presence of cytoplasmic vacuoles in myeloid and erythroid precursors in the bone marrow is characteristic. In up to half of the cases, VEXAS syndrome is associated with myelodysplastic syndrome. Dermatologists should be familiar with the clinical picture, as skin symptoms are often the first indicator of the disease. Molecular diagnostics are essential for confirming the diagnosis and risk stratification of affected patients. In this minireview we provide an overview of the pathophysiology, diagnosis and therapy of VEXAS syndrome and illustrate its clinical picture with two own cases.

Authors with CRIS profile

Ulrike Hüffmeier Lehrstuhl für Humangenetik

Involved external institutions

Paracelsus Medizinische Privatuniversität, Nürnberg DE Germany (DE) Universitätsklinikum Würzburg DE Germany (DE)

How to cite

APA:

Baur, V., Stoevesandt, J., Hueber, A., Hüffmeier, U., Kneitz, H., Morbach, H.,... Goebeler, M. (2023). VEXAS-Syndrome, a newly described autoinflammatory systemic disease with dermatologic manifestations. Journal der Deutschen Dermatologischen Gesellschaft. https://doi.org/10.1111/ddg.15227

MLA:

Baur, Vera, et al. "VEXAS-Syndrome, a newly described autoinflammatory systemic disease with dermatologic manifestations." Journal der Deutschen Dermatologischen Gesellschaft (2023).

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