{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:51:41Z","timestamp":1747187501865,"version":"3.40.5"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T00:00:00Z","timestamp":1697068800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003977","name":"Israel Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003977","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006245","name":"Ministry of Science and Technology, Israel","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006245","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Epidermolysis bullosa (EB) features skin and mucosal fragility due to pathogenic variants in genes encoding components of the cutaneous basement membrane. Based on the level of separation within the dermal\u2010epidermal junction, EB is sub\u2010classified into four major types including EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB) with 16 EB\u2010associated genes reported to date.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We ascertained a cohort of 151 EB patients of various Middle Eastern ethnic backgrounds.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The cohort was comprised of EBS (64%, 97\/151), DEB (21%, 31\/151), JEB (12%, 18\/151), and KEB (3%, 5\/151). <jats:italic>KRT14<\/jats:italic> and <jats:italic>KRT5<\/jats:italic> variants were most common among EBS patients with 43% (42\/97) and 46% (45\/97) of EBS patients carrying mutations in either of these two genes, respectively. Truncal involvement was more common in <jats:italic>KRT14<\/jats:italic>\u2010associated EBS as compared to EBS due to <jats:italic>KRT5<\/jats:italic> mutations (<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.05). Mutations in <jats:italic>COL17A1<\/jats:italic> and laminin 332\u2010encoding genes were identified in 55% (10\/18) and 45% (8\/18) of JEB patients. Scarring alopecia, caries, and EB nevi were most common among JEB patients carrying <jats:italic>COL17A1<\/jats:italic> mutations as compared to laminin 332\u2010associated JEB (<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.05). Abnormal nails were evident in most DEB and JEB patients while poikiloderma was exclusively observed in KEB (<jats:italic>p<\/jats:italic>\u2009&lt;\u2009.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>EB patients of Middle Eastern origin were found to feature specific phenotype\u2013genotype correlations of relevance to the diagnosis and genetic counseling of patients in this region.<\/jats:p><\/jats:sec>","DOI":"10.1111\/pde.15440","type":"journal-article","created":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T00:24:50Z","timestamp":1697156690000},"page":"1021-1027","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa"],"prefix":"10.1111","volume":"40","author":[{"given":"Shir","family":"Bergson","sequence":"first","affiliation":[{"name":"Division of Dermatology Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Daniely","sequence":"additional","affiliation":[{"name":"Division of Dermatology Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Bomze","sequence":"additional","affiliation":[{"name":"Division of Dermatology Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janan","family":"Mohamad","sequence":"additional","affiliation":[{"name":"Division of Dermatology Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiril","family":"Malovitski","sequence":"additional","affiliation":[{"name":"Division of Dermatology Tel Aviv Sourasky Medical 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