{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:58:08Z","timestamp":1791334688463,"version":"4.3.1"},"reference-count":15,"publisher":"American Medical Association (AMA)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Dermatol"],"published-print":{"date-parts":[[2024,5,1]]},"abstract":"<jats:sec id=\"ab-dbr240002-4\"><jats:title>Importance<\/jats:title><jats:p>Kindler epidermolysis bullosa is a genetic skin-blistering disease associated with recessive inherited pathogenic variants in <jats:italic>FERMT1<\/jats:italic>, which encodes kindlin-1. Severe orofacial manifestations of Kindler epidermolysis bullosa, including early oral squamous cell carcinoma, have been reported.<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr240002-5\"><jats:title>Objective<\/jats:title><jats:p>To determine whether hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa.<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr240002-6\"><jats:title>Design, Settings, and Participants<\/jats:title><jats:p>This longitudinal, 2-center cohort study was performed from 2003 to 2023 at the Epidermolysis Bullosa Centre, University of Freiburg, Germany, and the Special Care Dentistry Clinic, University of Chile in association with DEBRA Chile. Participants included a convenience sampling of all patients with a diagnosis of Kindler epidermolysis bullosa.<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr240002-7\"><jats:title>Main Outcomes and Measures<\/jats:title><jats:p>The primary outcomes were the presence of hypoplastic pitted amelogenesis imperfecta, intraoral wounds, gingivitis and periodontal disease, gingival hyperplasia, vestibular obliteration, cheilitis, angular cheilitis, chronic lip wounds, microstomia, and oral squamous cell carcinoma.<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr240002-8\"><jats:title>Results<\/jats:title><jats:p>The cohort consisted of 36 patients (15 female [42%] and 21 male [58%]; mean age at first examination, 23 years [range, 2 weeks to 70 years]) with Kindler epidermolysis bullosa. The follow-up ranged from 1 to 24 years. The enamel structure was assessed in 11 patients, all of whom presented with enamel structure abnormalities. The severity of hypoplastic pitted amelogenesis imperfecta varied from generalized to localized pitting. Additional orofacial features observed include gingivitis and periodontal disease, which was present in 90% (27 of 30 patients) of those assessed, followed by intraoral lesions (16 of 22 patients [73%]), angular cheilitis (24 of 33 patients [73%]), cheilitis (22 of 34 patients [65%]), gingival overgrowth (17 of 26 patients [65%]), microstomia (14 of 25 patients [56%]), and vestibular obliteration (8 of 16 patients [50%]). Other features included chronic lip ulcers (2 patients) and oral squamous cell carcinoma with lethal outcome (2 patients).<\/jats:p><\/jats:sec><jats:sec id=\"ab-dbr240002-9\"><jats:title>Conclusions and Relevance<\/jats:title><jats:p>These findings suggest that hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa and underscore the extent and severity of oral manifestations in Kindler epidermolysis bullosa and the need for early and sustained dental care.<\/jats:p><\/jats:sec>","DOI":"10.1001\/jamadermatol.2024.0065","type":"journal-article","created":{"date-parts":[[2024,3,20]],"date-time":"2024-03-20T15:01:30Z","timestamp":1710946890000},"page":"544","source":"Crossref","is-referenced-by-count":15,"title":["Orofacial Anomalies in Kindler Epidermolysis Bullosa"],"prefix":"10.1001","volume":"160","author":[{"given":"Susanne","family":"Kr\u00e4mer","sequence":"first","affiliation":[{"name":"Department of Dermatology, Medical Faculty and Medical 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Medical School, Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivelina","family":"Yordanova","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venerology, Medical University Pleven, Pleven, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnes","family":"Bloch-Zupan","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Strasbourg, Facult\u00e9 de Chirurgie Dentaire, Strasbourg, France"},{"name":"Universit\u00e9 de Strasbourg, Institut d\u2019\u00e9tudes Avanc\u00e9es, Strasbourg, France"},{"name":"H\u00f4pitaux Universitaires de Strasbourg, P\u00f4le de M\u00e9decine et Chirurgie Bucco-dentaires, H\u00f4pital Civil, Centre de R\u00e9f\u00e9rence des Maladies Rares Orales et Dentaires, O-Rares, Fili\u00e8re Sant\u00e9 Maladies rares TETE COU, European Reference Network ERN CRANIO, Strasbourg, France"},{"name":"Universit\u00e9 de Strasbourg, Institut de G\u00e9n\u00e9tique et de 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