{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T02:48:26Z","timestamp":1793933306058,"version":"4.8.0"},"reference-count":24,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,12,11]]},"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>A man in his 60s suffered from refractory, biopsy-proven subacute cutaneous lupus erythematosus that required chronic, moderate dose steroids to manage. His rash was accompanied by arthralgias and negative autoantibody testing. His subacute lupus erythematosus (SCLE) was responsive to tofacitinib, but thrombotic complications limited the use of this medication. He continued prednisone 20\u2009mg daily to manage his symptoms until treatment with anifrolumab completely cleared his skin. During a subsequent prednisone taper, he developed a macrocytic anaemia and elevated liver function tests that continued to progress. Ultimately, a bone marrow biopsy and myeloid next-generation sequencing revealed cellular vacuoles and UBA1 gene mutation, respectively, consistent with a diagnosis of VEXAS (<jats:underline>v<\/jats:underline>acuoles, <jats:underline>E<\/jats:underline>1 enzyme, <jats:underline>X<\/jats:underline>-linked, <jats:underline>a<\/jats:underline>utoinflammatory, <jats:underline>s<\/jats:underline>omatic) syndrome. We believe the chronic steroid use to control his SCLE masked the underlying diagnosis for many years.<\/jats:p>","DOI":"10.1136\/bcr-2024-261174","type":"journal-article","created":{"date-parts":[[2025,1,4]],"date-time":"2025-01-04T22:50:13Z","timestamp":1736031013000},"page":"e261174","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome in a patient with subacute cutaneous lupus (SCLE)"],"prefix":"10.1136","volume":"18","author":[{"given":"Stephanie","family":"Tancer","sequence":"first","affiliation":[{"name":"Rheumatology, University of Michigan Michigan Medicine, Ann Arbor, Michigan, USA"},{"name":"Rheumatology, University of Michigan Michigan Medicine, Ann Arbor, Michigan, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyla","family":"Rodgers","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas","family":"Fullen","sequence":"additional","affiliation":[{"name":"Pathology and Dermatology, University of Michigan Michigan Medicine, Ann Arbor, Michigan, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4006-8945","authenticated-orcid":false,"given":"J. Michelle","family":"Kahlenberg","sequence":"additional","affiliation":[{"name":"Rheumatology, University of Michigan Michigan Medicine, Ann Arbor, Michigan, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,1,4]]},"reference":[{"key":"2025082723264015000_18.1.e261174.1","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.abd.2022.09.005","article-title":"Cutaneous lupus erythematosus: a review of etiopathogenic, clinical, diagnostic and therapeutic aspects","volume":"98","author":"Vale","year":"2023","journal-title":"An Bras Dermatol"},{"key":"2025082723264015000_18.1.e261174.2","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1080\/1744666X.2020.1805316","article-title":"New insights into the progression from cutaneous lupus to systemic lupus erythematosus","volume":"16","author":"Zhou","year":"2020","journal-title":"Expert Rev Clin Immunol"},{"key":"2025082723264015000_18.1.e261174.3","first-page":"3591","article-title":"VEXAS syndrome","volume":"137","author":"Grayson","year":"2021","journal-title":"Blood"},{"key":"2025082723264015000_18.1.e261174.4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2026834"},{"key":"2025082723264015000_18.1.e261174.5","doi-asserted-by":"publisher","DOI":"10.1136\/ard-2023-224609"},{"key":"2025082723264015000_18.1.e261174.6","doi-asserted-by":"crossref","first-page":"2190","DOI":"10.1182\/blood.2023022329","article-title":"Venous and arterial thrombosis in patients with VEXAS syndrome","volume":"143","author":"Kusne","year":"2024","journal-title":"Blood"},{"key":"2025082723264015000_18.1.e261174.7","article-title":"A Practical Perspective of the Hematologic Manifestations of Systemic Lupus Erythematosus","volume":"14","author":"Santacruz","year":"2022","journal-title":"Cureus"},{"key":"2025082723264015000_18.1.e261174.8","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s10067-017-3858-4","article-title":"Low level of circulating basophil counts in biopsy-proven active lupus nephritis","volume":"37","author":"Liang","year":"2018","journal-title":"Clin Rheumatol"},{"key":"2025082723264015000_18.1.e261174.9","article-title":"Analysis of Peripheral Blood Basophils in Pediatric Systemic Lupus Erythematosus","volume":"12","author":"Dossybayeva","year":"2022","journal-title":"Diagn (Basel)"},{"key":"2025082723264015000_18.1.e261174.10","doi-asserted-by":"crossref","DOI":"10.1155\/2021\/6610509","article-title":"Cutaneous Manifestations of \u201cLupus\u201d: Systemic Lupus Erythematosus and Beyond","volume":"2021","author":"Cooper","year":"2021","journal-title":"Int J Rheumatol"},{"key":"2025082723264015000_18.1.e261174.11","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1097\/BOR.0000000000000704","article-title":"Treatment of cutaneous lupus erythematosus: current approaches and future strategies","volume":"32","author":"Shi","year":"2020","journal-title":"Curr Opin Rheumatol"},{"key":"2025082723264015000_18.1.e261174.12","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1111\/jdv.14053","article-title":"S2k guideline for treatment of cutaneous lupus erythematosus - guided by the European Dermatology Forum (EDF) in cooperation with the European Academy of Dermatology and Venereology (EADV)","volume":"31","author":"Kuhn","year":"2017","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"2025082723264015000_18.1.e261174.13","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1097\/BOR.0000000000000770","article-title":"Immunopathogenesis of skin injury in systemic lupus erythematosus","volume":"33","author":"Hile","year":"2021","journal-title":"Curr Opin Rheumatol"},{"key":"2025082723264015000_18.1.e261174.14","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/kev294"},{"key":"2025082723264015000_18.1.e261174.15","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000003091","article-title":"Certain Autoimmune Manifestations Are Associated With Distinctive Karyotypes and Outcomes in Patients With Myelodysplastic Syndrome: A Retrospective Cohort Study","volume":"95","author":"Lee","year":"2016","journal-title":"Medicine (Baltimore)"},{"key":"2025082723264015000_18.1.e261174.16","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1995.tb05310.x"},{"key":"2025082723264015000_18.1.e261174.17","doi-asserted-by":"crossref","DOI":"10.3390\/ijms25042261","article-title":"Autoimmunity and Autoinflammation: Relapsing Polychondritis and VEXAS Syndrome Challenge","volume":"25","author":"Cardoneanu","year":"2024","journal-title":"Int J Mol Sci"},{"key":"2025082723264015000_18.1.e261174.18","doi-asserted-by":"crossref","DOI":"10.3390\/biomedicines6030084","article-title":"Relapsing Polychondritis: An Updated Review","volume":"6","author":"Borgia","year":"2018","journal-title":"Biomedicines"},{"key":"2025082723264015000_18.1.e261174.19","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2010.02.016"},{"key":"2025082723264015000_18.1.e261174.20","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1288\/00005537-197906000-00009","article-title":"Relapsing polychondritis--report of ten cases","volume":"89","author":"Damiani","year":"1979","journal-title":"Laryngoscope"},{"key":"2025082723264015000_18.1.e261174.21","doi-asserted-by":"crossref","first-page":"1886","DOI":"10.1002\/art.41743","article-title":"Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS","volume":"73","author":"Ferrada","year":"2021","journal-title":"Arthritis Rheumatol"},{"key":"2025082723264015000_18.1.e261174.22","doi-asserted-by":"crossref","DOI":"10.1016\/j.xcrm.2023.101160","article-title":"Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS","volume":"4","author":"Wu","year":"2023","journal-title":"Cell Rep Med"},{"key":"2025082723264015000_18.1.e261174.23","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.abn2263","article-title":"Nonlesional lupus skin contributes to inflammatory education of myeloid cells and primes for cutaneous inflammation","volume":"14","author":"Billi","year":"2022","journal-title":"Sci Transl Med"},{"key":"2025082723264015000_18.1.e261174.24","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1002\/art.41957","article-title":"VEXAS syndrome with systemic lupus erythematosus: expanding the spectrum of associated conditions","volume":"74","author":"Sharma","year":"2022","journal-title":"Arthritis Rheumatol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-261174","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T06:26:51Z","timestamp":1756362411000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-261174"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":24,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,1,4]]},"published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1136\/bcr-2024-261174"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-261174","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]}}}