VEXAS Syndrome: Histiocytoid Cells With Feathery Cytoplasm as a Clue to the Diagnosis

J Cutan Pathol. 2025 Feb;52(2):108-112. doi: 10.1111/cup.14757. Epub 2024 Nov 28.

Abstract

VEXAS (Vacuoles, E1-ubiquitin activating enzyme UBA1 variant, X-linked, Autoinflammatory, Somatic) syndrome was initially described as having mature neutrophil-predominant infiltrates. More recent reports suggest that infiltrates can be composed of variable cell types. We report three cases of VEXAS syndrome with seven total biopsies having in common histiocytoid cells with feathery cytoplasm; these cells may be a potential clue to the diagnosis.

Keywords: Sweet syndrome; VEXAS syndrome; autoinflammation; neutrophilic dermatosis.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Cytoplasm* / metabolism
  • Cytoplasm* / pathology
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / pathology
  • Histiocytes* / pathology
  • Humans
  • Skin Diseases, Genetic* / diagnosis
  • Skin Diseases, Genetic* / pathology
  • Ubiquitin-Activating Enzymes* / genetics
  • Ubiquitin-Activating Enzymes* / metabolism
  • Vacuoles / pathology

Substances

  • UBA1 protein, human
  • Ubiquitin-Activating Enzymes

Supplementary concepts

  • VEXAS syndrome