{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T05:29:00Z","timestamp":1767677340577,"version":"3.48.0"},"reference-count":7,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,5,24]],"date-time":"2025-05-24T00:00:00Z","timestamp":1748044800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,5,24]],"date-time":"2025-05-24T00:00:00Z","timestamp":1748044800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Sage Open Medical Case Reports"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1177\/2050313x251341512","type":"journal-article","created":{"date-parts":[[2025,5,25]],"date-time":"2025-05-25T02:09:31Z","timestamp":1748138971000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A series of cutaneous manifestations in a patient with vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome"],"prefix":"10.1177","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-6064-4577","authenticated-orcid":false,"given":"Anne-Sophie","family":"Groleau","sequence":"first","affiliation":[{"name":"Division of Dermatology, Department of Medicine, Centre Hospitalier Universitaire de Montreal (CHUM), Universit\u00e9 de Montr\u00e9al, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex","family":"Derstenfeld","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Medicine, Centre Hospitalier Universitaire de Montreal (CHUM), Universit\u00e9 de Montr\u00e9al, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steffany","family":"Poupart","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Medicine, Centre Hospitalier Universitaire de Montreal (CHUM), Universit\u00e9 de Montr\u00e9al, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Marcil","sequence":"additional","affiliation":[{"name":"Division of Dermatology, Department of Medecine, Universit\u00e9 de Montr\u00e9al, QC, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,5,24]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/ced\/llae015"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/ard-2023-224460"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2021.3344"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/ajd.13932"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2022.10.052"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2024.1657"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.16132"}],"container-title":["Sage Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X251341512","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X251341512","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X251341512","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T05:19:24Z","timestamp":1767676764000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X251341512"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,24]]},"references-count":7,"alternative-id":["10.1177\/2050313X251341512"],"URL":"https:\/\/doi.org\/10.1177\/2050313x251341512","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"type":"print","value":"2050-313X"},{"type":"electronic","value":"2050-313X"}],"subject":[],"published":{"date-parts":[[2025,5,24]]},"article-number":"2050313X251341512"}}