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VEXAS综合征中克隆性和副克隆性皮肤受累的区分

Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome.

作者信息

Lacombe Valentin, Beucher Annaelle, Urbanski Geoffrey, Le Corre Yannick, Cottin Laurane, Croué Anne, Bouvier Anne

机构信息

Service de Médecine Interne et Immunologie Clinique, Centre Hospitalier Universitaire, 4 rue Larrey, Angers, France.

Mitolab Team-CNRS 6214-INSERM 1083-MITOVASC Institute, University of Angers, Angers, France.

出版信息

Exp Hematol Oncol. 2022 Feb 16;11(1):6. doi: 10.1186/s40164-022-00262-5.

Abstract

VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome is an inflammatory disorder with hematological and systemic features. A recent study demonstrated that the dermal infiltrate in neutrophilic dermatosis from VEXAS patients is derived from the pathological UBA1-mutated myeloid clone. Neutrophilic dermatosis is, however, only one of the various skin involvements observed in VEXAS syndrome. We analyzed 10 formalin-fixed paraffin-embedded skin biopsies from genetically confirmed VEXAS syndrome. UBA1 mutation was found in the biopsies related to neutrophilic dermatitis but in none of the other histological patterns (leukocytoclastic vasculitis and septal panniculitis). This could lead to a distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome, which could in turn improve therapeutic outcomes.

摘要

VEXAS(空泡、E1酶、X连锁、自身炎症性、体细胞)综合征是一种具有血液学和全身特征的炎症性疾病。最近一项研究表明,VEXAS患者中性粒细胞性皮肤病的真皮浸润源自病理性UBA1突变的髓系克隆。然而,中性粒细胞性皮肤病只是VEXAS综合征中观察到的各种皮肤受累情况之一。我们分析了10例经基因确诊的VEXAS综合征患者的福尔马林固定石蜡包埋皮肤活检标本。在与中性粒细胞性皮炎相关的活检标本中发现了UBA1突变,但在其他组织学类型(白细胞破碎性血管炎和间隔性脂膜炎)中均未发现。这可能有助于区分VEXAS综合征中的克隆性和副克隆性皮肤受累情况,进而改善治疗效果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a43/8848791/30e5814d0cbc/40164_2022_262_Fig1_HTML.jpg

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