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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| Format: | Article |
| Language: | English |
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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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| author | Anne-Sophie Groleau Alex Derstenfeld Steffany Poupart Isabelle Marcil |
| author_facet | Anne-Sophie Groleau Alex Derstenfeld Steffany Poupart Isabelle Marcil |
| author_sort | Anne-Sophie Groleau |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-6ec77da5c23246efbc7b5c3dc92a5549 |
| institution | DOAJ |
| issn | 2050-313X |
| language | English |
| publishDate | 2025-05-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | SAGE Open Medical Case Reports |
| spelling | doaj-art-6ec77da5c23246efbc7b5c3dc92a55492025-08-20T03:08:22ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2025-05-011310.1177/2050313X251341512A series of cutaneous manifestations in a patient with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndromeAnne-Sophie Groleau0Alex Derstenfeld1Steffany Poupart2Isabelle Marcil3Division of Dermatology, Department of Medicine, Centre Hospitalier Universitaire de Montreal (CHUM), Université de Montréal, QC, CanadaDivision of Dermatology, Department of Medicine, Centre Hospitalier Universitaire de Montreal (CHUM), Université de Montréal, QC, CanadaDivision of Dermatology, Department of Medicine, Centre Hospitalier Universitaire de Montreal (CHUM), Université de Montréal, QC, CanadaDivision of Dermatology, Department of Medecine, Université de Montréal, QC, CanadaVacuoles, 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.https://doi.org/10.1177/2050313X251341512 |
| spellingShingle | Anne-Sophie Groleau Alex Derstenfeld Steffany Poupart Isabelle Marcil A series of cutaneous manifestations in a patient with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome SAGE Open Medical Case Reports |
| title | A series of cutaneous manifestations in a patient with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome |
| title_full | A series of cutaneous manifestations in a patient with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome |
| title_fullStr | A series of cutaneous manifestations in a patient with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome |
| title_full_unstemmed | A series of cutaneous manifestations in a patient with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome |
| title_short | A series of cutaneous manifestations in a patient with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome |
| title_sort | series of cutaneous manifestations in a patient with vacuoles e1 enzyme x linked autoinflammatory somatic syndrome |
| url | https://doi.org/10.1177/2050313X251341512 |
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