{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:43:21Z","timestamp":1790419401617,"version":"4.1.0"},"reference-count":30,"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":"Importance<\/jats:title>Ectodermal dysplasias constitute a group of rare genetic disorders of the skin and skin appendages with hypodontia, hypotrichosis, and hypohidrosis as cardinal features. There is a lack of population-based research into the epidemiology of ectodermal dysplasias.<\/jats:p><\/jats:sec>Objective<\/jats:title>To establish a validated population-based cohort of patients with ectodermal dysplasia in Denmark and to assess the disease prevalence and patient characteristics.<\/jats:p><\/jats:sec>Design, Setting, and Participants<\/jats:title>This nationwide cohort study used individual-level registry data recorded across the Danish universal health care system to identify patients with ectodermal dysplasias from January 1, 1995, to August 25, 2021. A 3-level search of the Danish National Patient Registry and the Danish National Child Odontology Registry was conducted to identify patients with diagnosis codes indicative of ectodermal dysplasias; patients registered in the Danish RAREDIS Database, the Danish Database of Genodermatoses, and local databases were also added. The search results underwent diagnosis validation and review of clinical data using medical records. Of 844 patient records suggestive of ectodermal dysplasias, 791 patients (93.7%) had medical records available for review. Positive predictive values of the diagnosis coding were computed, birth prevalence was estimated, and patient characteristics were identified. Data analysis was performed from May 4 to December 22, 2023.<\/jats:p><\/jats:sec>Results<\/jats:title>The identified and validated study cohort included 396 patients (median [IQR] age at diagnosis, 13 [4-30] years, 246 females [62.1%]), of whom 319 had confirmed ectodermal dysplasias and 77 were likely cases. The combined positive predictive value (PPV) for ectodermal dysplasia\u2212specific diagnosis codes was 67.0% (95% CI, 62.7%-71.0%). From 1995 to 2011, the estimated minimum birth prevalence per 100\u202f000 live births was 14.5 (95% CI, 12.2-16.7) for all ectodermal dysplasias and 2.8 (95% CI, 1.8-3.8) for X-linked hypohidrotic ectodermal dysplasias. A molecular genetic diagnosis was available for 241 patients (61%), including EDA<\/jats:italic> (n\u2009=\u2009100), IKBKG<\/jats:italic> (n\u2009=\u200955), WNT10A<\/jats:italic> (n\u2009=\u200921), TRPS1<\/jats:italic> (n\u2009=\u200918), EDAR<\/jats:italic> (n\u2009=\u200910), P63<\/jats:italic> (n\u2009=\u20099), GJB6<\/jats:italic> (n\u2009=\u20099), PORCN<\/jats:italic> (n\u2009=\u20097), and other rare genetic variants.<\/jats:p><\/jats:sec>Conclusions and Relevance<\/jats:title>The findings of this nationwide cohort study indicate that the prevalence of ectodermal dysplasias was lower than previously reported. Furthermore, PPVs of the search algorithms emphasized the importance of diagnosis validation. The establishment of a large nationwide cohort of patients with ectodermal dysplasias, including detailed clinical and molecular data, is a unique resource for future research in ectodermal dysplasias.<\/jats:p><\/jats:sec>","DOI":"10.1001\/jamadermatol.2024.0036","type":"journal-article","created":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T15:21:32Z","timestamp":1710343292000},"page":"502","source":"Crossref","is-referenced-by-count":14,"title":["Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark"],"prefix":"10.1001","volume":"160","author":[{"given":"Laura Krogh","family":"Herlin","sequence":"first","affiliation":[{"name":"Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark"},{"name":"Department of Clinical Medicine, Aarhus University, Aarhus, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigrun A. 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