UBA1 Variations in Neutrophilic Dermatosis Skin Lesions of Patients With VEXAS Syndrome.

ABSTRACT:

Importance

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described severe adult-onset autoinflammatory disease that is associated with myeloid lineage-restricted ubiquitin-activating enzyme 1 (UBA1) somatic variations that primarily affect the skin (Sweet syndrome), cartilage, and bone marrow. Skin symptoms have been poorly described.

Objective

To better describe clinical and pathological skin manifestations and their pathophysiology in VEXAS syndrome.

Design, setting, and participants

This multicenter retrospective case series study of clinical and histological features of 8 patients with VEXAS syndrome and skin involvement was conducted in France from December 2007 to March 2021, with molecular data obtained from March to April 2022.

SUBMITTER: Zakine E 

PROVIDER: S-EPMC8427502 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature