{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T10:38:05Z","timestamp":1756463885196,"version":"3.37.3"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T00:00:00Z","timestamp":1702944000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,21]]},"abstract":"<jats:p>Multiple self-healing squamous epithelioma (MSSE) is characterized by development of multiple self-healing skin tumours that may affect any part of the body. Spontaneous resolution may take several months leaving pitted scars. Most pathogenic variants in patients with MSSE are truncating variants distributed throughout the gene or missense variants in the receptor domain of TGFBR1. Missense variants in the kinase domain of TGFBR1 cause Loeys\u2013Dietz syndrome (LDS), which is a connective tissue disorder associated with increased risk of aortic and arterial aneurysms and dissection. We report the coexistence of MSSE and features of LDS caused by a pathogenic missense variant in the kinase domain of TGFBR1.<\/jats:p>","DOI":"10.1093\/ced\/llad451","type":"journal-article","created":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T16:24:50Z","timestamp":1703003090000},"page":"665-669","source":"Crossref","is-referenced-by-count":2,"title":["Coexistence of multiple self-healing squamous epithelioma and features of Loeys\u2013Dietz syndrome caused by a pathogenic missense variant in the kinase domain of\u00a0<i>TGFBR1<\/i>"],"prefix":"10.1093","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9602-4063","authenticated-orcid":false,"given":"Schaida","family":"Schirwani","sequence":"first","affiliation":[{"name":"Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital , Southampton , UK"},{"name":"Departments of Dermatology"},{"name":"Human Development & Health, Faculty of Medicine, University of Southampton , Southampton , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bea","family":"Suarez","sequence":"additional","affiliation":[{"name":"Departments of Dermatology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Sommerlad","sequence":"additional","affiliation":[{"name":"Cellular Pathology, University Hospital Southampton NHS Foundation Trust , Southampton , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma","family":"Corden","sequence":"additional","affiliation":[{"name":"Departments of Dermatology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geeta","family":"Belgi","sequence":"additional","affiliation":[{"name":"Departments of Dermatology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Eccles","sequence":"additional","affiliation":[{"name":"Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital , Southampton , UK"},{"name":"Human Development & Health, Faculty of Medicine, University of Southampton , Southampton , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Fityan","sequence":"additional","affiliation":[{"name":"Departments of Dermatology"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,12,19]]},"reference":[{"key":"2024052116311122100_llad451-B1","doi-asserted-by":"crossref","DOI":"10.3390\/genes11121410","article-title":"Multiple self-healing squamous epithelioma (MSSE): a digenic trait associated with loss of function mutations in TGFBR1 and variants at a second linked locus on the long arm of chromosome 9","volume":"11","author":"Goudie","year":"2020","journal-title":"Genes (Basel)"},{"key":"2024052116311122100_llad451-B2","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1056\/NEJMoa055695","article-title":"Aneurysm syndromes caused by mutations in the TGF-beta receptor","volume":"355","author":"Loeys","year":"2006","journal-title":"N Engl J Med"},{"key":"2024052116311122100_llad451-B3","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1038\/jid.2013.45","article-title":"Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology","volume":"133","author":"Kang","year":"2013","journal-title":"J Invest Dermatol"},{"key":"2024052116311122100_llad451-B4","doi-asserted-by":"crossref","first-page":"e100","DOI":"10.1111\/j.1365-2230.2009.03668.x","article-title":"Severe exacerbation of multiple self-healing squamous epithelioma (Ferguson-Smith disease) with radiotherapy, which was successfully treated with acitretin","volume":"35","author":"Robertson","year":"2010","journal-title":"Clin Exp Dermatol"},{"key":"2024052116311122100_llad451-B5","doi-asserted-by":"crossref","first-page":"e89749","DOI":"10.1371\/journal.pone.0089749","article-title":"Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model","volume":"9","author":"Renard","year":"2014","journal-title":"PLOS ONE"},{"key":"2024052116311122100_llad451-B6","first-page":"e29","article-title":"Novel phenotypic overlap between Ferguson-Smith disease and Loeys-Dietz syndrome (Poster 14). 11th BAD RCP medical dermatology meeting; 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