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

一例伴有空泡、E1酶、X连锁、自身炎症性躯体综合征的患者出现一系列皮肤表现

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Abstract

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 manifestations are frequently the initial presentation and are a marker of systemic disease. Here, we present an unusual case of a 71-year-old man with multiple cutaneous manifestations of vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome occurring simultaneously.

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