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

Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome

Valentin Lacombe #  1   2 , Annaelle Beucher #  3   4 , Geoffrey Urbanski  5   6 , Yannick Le Corre  7 , Laurane Cottin  3   8 , Anne Croué  9 , Anne Bouvier  3   4
Affiliations

Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome

Valentin Lacombe et al. Exp Hematol Oncol. .

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.

Keywords: Autoinflammatory diseases; Clonal hematopoiesis; Mutation; Sweet syndrome; Vasculitis.

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Conflict of interest statement

None.

Figures

Figure 1
Figure 1
Results of molecular analysis with Sanger sequencing according to the type of skin involvement. A presents the UBA1 mutation (p.Met41Leu, c.121A>C, mutational load >50%) observed with Sanger sequencing from a skin biopsy in a patient with VEXAS syndrome and neutrophilic dermatosis. B presents the UBA1-wild type gene observed in a skin biopsy in a patient with VEXAS syndrome and leukocytoclastic vasculitis
See this image and copyright information in PMC

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