{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:40:05Z","timestamp":1756377605448,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,1,29]]},"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:p>Multiple Self-Healing Squamous Epithelioma of Ferguson-Smith (OMIM 132800) is a syndrome increasing the risk of developing keratoacanthomas, which are locally aggressive skin tumours. Loeys-Dietz syndrome is a connective tissue disease characterised by arterial fragility. There is no increased risk of skin tumours classically described.<\/jats:p>\n               <jats:p>Both phenotypes have been associated with a different pathogenic variant of the <jats:italic>TGFBR1<\/jats:italic> gene involved in the TGFbeta signalling pathway. We present the case of a patient with both phenotypes. This appears to be caused by a single likely pathogenic variant within <jats:italic>TGFBR1<\/jats:italic>: c.1421G&gt;A (p.Cyst474Tyr) in the protein domain of the serine-threonine protein kinase.<\/jats:p>\n               <jats:p>This is the fourth reported case exhibiting this dual clinical presentation with a single genetic variant in this same region.<\/jats:p>","DOI":"10.1136\/bcr-2024-261563","type":"journal-article","created":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T12:45:19Z","timestamp":1739277919000},"page":"e261563","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Multiple Self-Healing Squamous Epithelioma and Loeys-Dietz syndrome: a single <i>TGFBR1<\/i> variant, two phenotypes in one patient"],"prefix":"10.1136","volume":"18","author":[{"given":"Emilie","family":"Moeris","sequence":"first","affiliation":[{"name":"Plastic and Reconstructive Surgery, Grand Hopital de Charleroi, Charleroi, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gladys","family":"Battisti","sequence":"additional","affiliation":[{"name":"G\u00e9n\u00e9tique clinique, Institut de Pathologie et de Genetique asbl, Gosselies, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoine","family":"Lenne","sequence":"additional","affiliation":[{"name":"Plastic and Reconstructive Surgery, Grand Hopital de Charleroi, Charleroi, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Cambier","sequence":"additional","affiliation":[{"name":"Plastic and Reconstructive Surgery, Grand Hopital de Charleroi, Charleroi, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,2,11]]},"reference":[{"doi-asserted-by":"publisher","key":"2025082803014407000_18.2.e261563.1","DOI":"10.1016\/j.jaad.2015.11.033"},{"key":"2025082803014407000_18.2.e261563.2","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":"2025082803014407000_18.2.e261563.3","doi-asserted-by":"crossref","first-page":"52","DOI":"10.2340\/00015555-0359","article-title":"Multiple self-healing squamous epithelioma of Ferguson-Smith: observations in a Danish family covering four generations","volume":"88","author":"Broesby-Olsen","year":"2008","journal-title":"Acta Derm Venereol"},{"doi-asserted-by":"publisher","key":"2025082803014407000_18.2.e261563.4","DOI":"10.1038\/ng1511"},{"doi-asserted-by":"publisher","key":"2025082803014407000_18.2.e261563.5","DOI":"10.1016\/j.ijcard.2022.05.065"},{"unstructured":"Loeys BL , Dietz HC . Loeys-dietz syndrome. In: GeneReviews. 2008. Available: https:\/\/www.ncbi.nlm.nih.gov\/books\/","key":"2025082803014407000_18.2.e261563.6"},{"doi-asserted-by":"publisher","key":"2025082803014407000_18.2.e261563.7","DOI":"10.1038\/gim.2014.11"},{"doi-asserted-by":"publisher","key":"2025082803014407000_18.2.e261563.8","DOI":"10.1038\/gim.2015.30"},{"doi-asserted-by":"publisher","key":"2025082803014407000_18.2.e261563.9","DOI":"10.1038\/ng.780"},{"doi-asserted-by":"publisher","key":"2025082803014407000_18.2.e261563.10","DOI":"10.1136\/jmg.2009.072785"},{"doi-asserted-by":"publisher","key":"2025082803014407000_18.2.e261563.11","DOI":"10.1056\/NEJM200003093421001"},{"key":"2025082803014407000_18.2.e261563.12","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1038\/s41431-018-0127-1","article-title":"Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma","volume":"26","author":"Fujiwara","year":"2018","journal-title":"Eur J Hum Genet"},{"key":"2025082803014407000_18.2.e261563.13","doi-asserted-by":"crossref","first-page":"2892","DOI":"10.1002\/ajmg.a.40652","article-title":"Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant","volume":"176","author":"Sirisomboonwong","year":"2018","journal-title":"Am J Med Genet A"},{"doi-asserted-by":"publisher","key":"2025082803014407000_18.2.e261563.14","DOI":"10.3109\/10799893.2012.664553"},{"doi-asserted-by":"publisher","key":"2025082803014407000_18.2.e261563.15","DOI":"10.1038\/ng.2366"},{"key":"2025082803014407000_18.2.e261563.16","first-page":"79","article-title":"Genetic and phenotypic heterogeneity in Ferguson\u2013 Smith disease: a case series","volume":"175","author":"Shukur","year":"2016","journal-title":"Bristish J Dermatol"},{"key":"2025082803014407000_18.2.e261563.17","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1093\/ced\/llad451","article-title":"Coexistence of multiple self-healing squamous epithelioma and features of Loeys-Dietz syndrome caused by a pathogenic missense variant in the kinase domain of TGFBR1","volume":"49","author":"Schirwani","year":"2024","journal-title":"Clin Exp Dermatol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-261563","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:01:53Z","timestamp":1756375313000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-261563"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":17,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,2,11]]},"published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1136\/bcr-2024-261563"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-261563","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,2]]}}}