{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T15:34:50Z","timestamp":1791473690686,"version":"4.3.4"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T00:00:00Z","timestamp":1767657600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T00:00:00Z","timestamp":1767657600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,6]]},"abstract":"ABSTRACT<\/jats:title>\n \n Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant disorder characterized by non\u2010scarring alopecia, skin and mucosal lesions, and keratitis. Autosomal dominant\n SREBF1<\/jats:italic>\n \u2010related Ichthyosis Follicularis, Atrichia, Photophobia (IFAP) syndrome is another rare, similar disorder. Both are now known to be caused by the same NM_004176.5(\n SREBF1<\/jats:italic>\n ):c.1579C>T variant, but were previously described as separate disorders. Here, we describe a case series of four novel patients that we diagnosed with\n SREBF1\u2010<\/jats:italic>\n related IFAP due to the NM_004176.5(\n SREBF1<\/jats:italic>\n ):c.1579C>T variant. We also performed a literature review and applied the ClinGen Lumping and Splitting criteria to these two disorders. Three of our four patients had significant gastrointestinal manifestations including gastroesophageal reflux disease and esophageal strictures\/webs. To date, no gastrointestinal manifestations have been described in\n SREBF1\u2010<\/jats:italic>\n related IFAP. There are, however, multiple reports of these manifestations in cases of HMD. Applying the ClinGen Lumping and Splitting criteria demonstrated that these two previously distinct disorders are actually favored to be \u201clumped\u201d into one. Taken together, a documented overlap in clinical features, the shared variant, and the gastrointestinal manifestations of our\n SREBF1\u2010<\/jats:italic>\n related IFAP patients provide evidence that HMD and\n SREBF1\u2010<\/jats:italic>\n related IFAP better represent variable expressivity of the same disorder. We propose using the unifying name of \u201c\n SREBF1<\/jats:italic>\n \u2010syndromic epidermal differentiation disorder\u201d (\n SREBF1<\/jats:italic>\n \u2010sEDD).\n <\/jats:p>","DOI":"10.1111\/cge.70135","type":"journal-article","created":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T10:45:31Z","timestamp":1767696331000},"page":"1049-1054","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Phenotypic Expansion of Autosomal Dominant\n SREBF1<\/i>\n \u2010Related Ichthyosis Follicularis, Atrichia, Photophobia: It Is in Fact the Same Condition as Hereditary Mucoepithelial Dysplasia"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6622-1672","authenticated-orcid":false,"given":"Brady A.","family":"Slater","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Section of Genetics University of Colorado School of Medicine Aurora Colorado USA"},{"name":"Department of Medicine, Adult Medical Genetics Program University of Colorado School of Medicine Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha","family":"Seymour","sequence":"additional","affiliation":[{"name":"Department of Medicine, Adult Medical Genetics Program University of Colorado School of Medicine Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Burt","sequence":"additional","affiliation":[{"name":"Department of Medicine, Adult Medical Genetics Program University of Colorado School of Medicine Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janell","family":"Kierstein","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Genetics University of Colorado School of Medicine Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Austin A.","family":"Larson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Genetics University of Colorado School of Medicine Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9043-0810","authenticated-orcid":false,"given":"Matthew R. G.","family":"Taylor","sequence":"additional","affiliation":[{"name":"Department of Medicine, Adult Medical Genetics Program University of Colorado School of Medicine Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,6]]},"reference":[{"issue":"4","key":"e_1_2_11_2_1","first-page":"414","article-title":"Hereditary Mucoepithelial Dysplasia: A Disease Apparently of Desmosome and Gap Junction Formation","volume":"31","author":"Witkop C. J.","year":"1979","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2019.10.014"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.05.006"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2024.103997"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390318"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61849"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14560"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2020.09.035"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.014"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1985.01660090081019"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.xgen.2022.100131"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bjd\/ljaf123"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70135","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70135","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70135","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T02:47:22Z","timestamp":1778640442000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70135"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,6]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1111\/cge.70135"],"URL":"https:\/\/doi.org\/10.1111\/cge.70135","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,6]]},"assertion":[{"value":"2025-11-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-31","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}