VEXAS Syndrome: an Adult-Onset Autoinflammatory Disease with Cutaneous Manifestations. A Review

Czech version

Authors: T. Sychrovská ¹; H. Mann ¹
Authors‘ workplace: Revmatologický ústav a Klinika revmatologie 1. LF UK, Praha ¹
Published in: Čes-slov Derm, 100, 2025, No. 4, p. 170-175
Category: Innovations in Medicine

Overview

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic mutation) is a chronic progressive disease first described in 2020. It is an X-linked autoinflammatory disease that is caused by a somatic mutation in the UBA1 gene in hematopoietic cells. The disease typically affects older men. VEXAS syndrome is characterized by multi-organ inflammation, presenting with general symptoms such as fever and elevated inflammatory markers, as well as organ-specific symptoms. Almost any organ can be affected, including the eyes, lungs, joints, cartilage, or blood vessels in the form of vasculitis. Skin manifestations are not only the most common but also often the first sign of the disease. Diagnosis requires the detection of a pathogenic variant of the UBA1 gene.

Keywords:

VEXAS syndrome – UBA1 mutation – autoinflammatory neutrophilic dermatosis

Sources

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Poděkování

Tato práce je podpořena grantem AZV ČR č. NU23-1000160 a projektem podpory pro specifický vysokoškolský výzkum SVV 260 764.

Střet zájmů

Autorka v souvislosti s tématem práce v posledních 12 měsících nespolupracovala s žádnou farmaceutickou firmou.

Do redakce došlo dne 13. 6. 2025.

Adresa pro korespondenci:
MUDr. Tereza Sychrovská
Na Slupi 450/4 128 00 Praha 2
e-mail: sychrovska@revma.cz

Labels

Dermatology & STDs Paediatric dermatology & STDs

Hand Eczema Part I: Subtypes, Epidemiology, Diagnosis, Prevention and Treatment

Generalizované folikulárně vázané papuly

Article was published in

Czech-Slovak Dermatology

2025 Issue 4