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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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2025-05-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X251341512 |
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| Summary: | 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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| ISSN: | 2050-313X |