VEXAS syndrome: A review of cutaneous findings and treatments in an emerging autoinflammatory disease.
Exp Dermatol
; 33(3): e15050, 2024 Mar.
Article
de En
| MEDLINE
| ID: mdl-38469984
ABSTRACT
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic mutation) syndrome is a novel autoinflammatory, late-onset, disorder first identified in 2020. It is caused by mutations in the UBA1 gene. The most prominent clinical features reported by VEXAS patients are cutaneous and haematological, having characteristic skin features reported as the initial presenting findings of the disease. VEXAS is a severe and treatment-resistant condition with high morbidity and mortality rates. Here, we examine all case reports and case series of VEXAS syndrome through March 2023 focusing on those presenting cutaneous manifestations. We discuss these manifestations and their reported treatment strategies. In many cases, it might be first suspected and diagnosed by dermatologists, highlighting their vital role in initiating timely multidisciplinary care.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Maladies génétiques de la peau
/
Syndromes myélodysplasiques
/
Maladies auto-inflammatoires héréditaires
Limites:
Humans
Langue:
En
Journal:
Exp Dermatol
Sujet du journal:
DERMATOLOGIA
Année:
2024
Type de document:
Article
Pays d'affiliation:
États-Unis d'Amérique