{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T22:36:12Z","timestamp":1793140572202,"version":"4.5.0"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T00:00:00Z","timestamp":1644969600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T00:00:00Z","timestamp":1644969600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Exp Hematol Oncol"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome is an inflammatory disorder with hematological and systemic features. A recent study demonstrated that the dermal infiltrate in neutrophilic dermatosis from VEXAS patients is derived from the pathological <jats:italic>UBA1<\/jats:italic>-mutated myeloid clone. Neutrophilic dermatosis is, however, only one of the various skin involvements observed in VEXAS syndrome. We analyzed 10 formalin-fixed paraffin-embedded skin biopsies from genetically confirmed VEXAS syndrome. <jats:italic>UBA1<\/jats:italic> mutation was found in the biopsies related to neutrophilic dermatitis but in none of the other histological patterns (leukocytoclastic vasculitis and septal panniculitis). This could lead to a distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome, which could in turn improve therapeutic outcomes.<\/jats:p>","DOI":"10.1186\/s40164-022-00262-5","type":"journal-article","created":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T12:16:38Z","timestamp":1645013798000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome"],"prefix":"10.1186","volume":"11","author":[{"given":"Valentin","family":"Lacombe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annaelle","family":"Beucher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geoffrey","family":"Urbanski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yannick","family":"Le Corre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurane","family":"Cottin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Crou\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Bouvier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,2,16]]},"reference":[{"key":"262_CR1","doi-asserted-by":"publisher","first-page":"2628","DOI":"10.1056\/NEJMoa2026834","volume":"383","author":"DB Beck","year":"2020","unstructured":"Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383:2628\u201338.","journal-title":"N Engl J Med"},{"key":"262_CR2","doi-asserted-by":"publisher","DOI":"10.7326\/L21-0023","author":"V Lacombe","year":"2021","unstructured":"Lacombe V, Kosmider O, Pr\u00e9vost M, Lavigne C, Urbanski G. severe joint involvement in VEXAS syndrome: a case report. Ann Intern Med. 2021. https:\/\/doi.org\/10.7326\/L21-0023.","journal-title":"Ann Intern Med"},{"key":"262_CR3","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.20805","author":"S Georgin-Lavialle","year":"2021","unstructured":"Georgin-Lavialle S, Terrier B, Guedon AF, Heiblig M, Comont T, Lazaro E, et al. Further characterization of clinical and laboratory features occurring in VEXAS syndrome in a large-scale analysis of multicenter case-series of 116 French patients. Br J Dermatol. 2021. https:\/\/doi.org\/10.1111\/bjd.20805.","journal-title":"Br J Dermatol"},{"key":"262_CR4","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1186\/s40164-021-00217-2","volume":"10","author":"H Huang","year":"2021","unstructured":"Huang H, Zhang W, Cai W, Liu J, Wang H, Qin T, et al. VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder. Exp Hematol Oncol. 2021;10:23.","journal-title":"Exp Hematol Oncol"},{"key":"262_CR5","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2021.3344","author":"E Zakine","year":"2021","unstructured":"Zakine E, Schell B, Battistella M, Vignon-Pennamen M-D, Chasset F, Mah\u00e9vas T, et al. UBA1 variations in neutrophilic dermatosis skin lesions of patients with VEXAS syndrome. JAMA Dermatol. 2021. https:\/\/doi.org\/10.1001\/jamadermatol.2021.3344.","journal-title":"JAMA Dermatol"},{"key":"262_CR6","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2020010286","author":"JA Poulter","year":"2021","unstructured":"Poulter JA, Collins JC, Cargo C, de Tute RM, Evans P, Ospina Cardona D. Novel somatic mutations in UBA1 as a cause of VEXAS syndrome. Blood. 2021. https:\/\/doi.org\/10.1182\/blood.2020010286.","journal-title":"Blood"},{"key":"262_CR7","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.17679","author":"V Lacombe","year":"2021","unstructured":"Lacombe V, Prevost M, Bouvier A, Th\u00e9pot S, Chabrun F, Kosmider O, et al. Vacuoles in neutrophil precursors in VEXAS syndrome: diagnostic performances and threshold. Br J Haematol. 2021. https:\/\/doi.org\/10.1111\/bjh.17679.","journal-title":"Br J Haematol"},{"key":"262_CR8","doi-asserted-by":"publisher","DOI":"10.1002\/art.41743","author":"MA Ferrada","year":"2021","unstructured":"Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, et al. Somatic mutations in UBA1 define a distinct subset of relapsing polychondritis patients With VEXAS. Arthritis Rheumatol. 2021. https:\/\/doi.org\/10.1002\/art.41743.","journal-title":"Arthritis Rheumatol"},{"key":"262_CR9","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.17893","author":"T Comont","year":"2021","unstructured":"Comont T, Heiblig M, Rivi\u00e8re E, Terriou L, Rossignol J, Bouscary D, et al. Azacitidine for patients with Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French VEXAS registry. Br J Haematol. 2021. https:\/\/doi.org\/10.1111\/bjh.17893.","journal-title":"Br J Haematol"}],"container-title":["Experimental Hematology &amp; Oncology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40164-022-00262-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s40164-022-00262-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s40164-022-00262-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T12:18:11Z","timestamp":1645013891000},"score":1,"resource":{"primary":{"URL":"https:\/\/ehoonline.biomedcentral.com\/articles\/10.1186\/s40164-022-00262-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,16]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["262"],"URL":"https:\/\/doi.org\/10.1186\/s40164-022-00262-5","relation":{},"ISSN":["2162-3619"],"issn-type":[{"value":"2162-3619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,16]]},"assertion":[{"value":"7 December 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 February 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 February 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the ethics committee of Angers University Hospital (2021-027) and was conducted in compliance with the Declaration of Helsinki.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The two patients presented in Figure  gave their signed consent for the publication of these photographs.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"None.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"6"}}