{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T15:58:50Z","timestamp":1758124730187},"reference-count":45,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T00:00:00Z","timestamp":1699747200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Deutsche Derma Gesell"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>VEXAS syndrome is a recently identified autoinflammatory systemic disease caused by an acquired somatic mutation of the X\u2010linked <jats:italic>UBA1<\/jats:italic> gene, the key enzyme of the first step of ubiquitylation. The acronym VEXAS stands for the characteristics <jats:italic>Vacuoles<\/jats:italic>, <jats:italic>E1 enzyme<\/jats:italic>, <jats:italic>X\u2010linked<\/jats:italic>, <jats:italic>autoinflammatory<\/jats:italic> and <jats:italic>somatic<\/jats:italic>. The disease occurs in advanced adulthood preferentially in men and is characterized by hematological, rheumatological and dermatological symptoms. The latter include neutrophil\u2010rich lesions reminiscent of Sweet's syndrome, erythema nodosum\u2010 and panniculitis\u2010like skin manifestations and recurrent polychondritis of the nose and auricles. The presence of cytoplasmic vacuoles in myeloid and erythroid precursors in the bone marrow is characteristic. In up to half of the cases, VEXAS syndrome is associated with myelodysplastic syndrome. Dermatologists should be familiar with the clinical picture, as skin symptoms are often the first indicator of the disease. Molecular diagnostics are essential for confirming the diagnosis and risk stratification of affected patients. In this minireview we provide an overview of the pathophysiology, diagnosis and therapy of VEXAS syndrome and illustrate its clinical picture with two own cases.<\/jats:p>","DOI":"10.1111\/ddg.15227","type":"journal-article","created":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T02:44:53Z","timestamp":1699843493000},"page":"1456-1463","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["VEXAS\u2010Syndrome, a newly described autoinflammatory systemic disease with dermatologic manifestations"],"prefix":"10.1111","volume":"21","author":[{"given":"Vera","family":"Baur","sequence":"first","affiliation":[{"name":"Department of Dermatology Paracelsus Medical Private University  Nuremberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna","family":"Stoevesandt","sequence":"additional","affiliation":[{"name":"Department of Dermatology Venereology and Allergology University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Axel","family":"Hueber","sequence":"additional","affiliation":[{"name":"Department of Rheumatology Paracelsus Medical Private University  Nuremberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike","family":"H\u00fcffmeier","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Erlangen Friedrich\u2010Alexander University Erlangen\u2010Nuremberg  Erlangen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hermann","family":"Kneitz","sequence":"additional","affiliation":[{"name":"Department of Dermatology Venereology and Allergology University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henner","family":"Morbach","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erwin","family":"Schultz","sequence":"additional","affiliation":[{"name":"Department of Dermatology Paracelsus Medical Private University  Nuremberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Goebeler","sequence":"additional","affiliation":[{"name":"Department of Dermatology Venereology and Allergology University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,11,12]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2026834"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.42258"},{"key":"e_1_2_11_4_1","first-page":"3591","article-title":"VEXAS syndrome","volume":"137","author":"Grayson 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