A series of cutaneous manifestations in a patient with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome

A series of cutaneous manifestations in a patient with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic is a rare, autoinflammatory disorder caused by a somatic mutation of ubiquitin-activating enzyme 1. Common systemic manifestations include fever, neutrophilic dermatoses, relapsing polychondritis, and pulmonary manifestations. Cutaneous manife...

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Bibliographic Details
Main Authors: Anne-Sophie Groleau, Alex Derstenfeld, Steffany Poupart, Isabelle Marcil
Format: Article
Language:English
Published: SAGE Publishing 2025-05-01
Series:SAGE Open Medical Case Reports
Online Access:https://doi.org/10.1177/2050313X251341512
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