{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T01:36:11Z","timestamp":1789781771981,"version":"4.0.1"},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T00:00:00Z","timestamp":1725926400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007605","name":"Aarhus Universitet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007605","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003554","name":"Lundbeck Foundation","doi-asserted-by":"publisher","award":["R403\u20102022\u20101385"],"award-info":[{"award-number":["R403\u20102022\u20101385"]}],"id":[{"id":"10.13039\/501100003554","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare ectodermal dysplasia that primarily affects the skin, skeleton, and eyes. It is an X\u2010linked dominant disorder, predominantly seen in females, caused by pathogenic variants in\n                      <jats:italic>PORCN<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We characterized a case series of four genetically confirmed FDH patients (three females, one male) at Aarhus University Hospital, Denmark. We estimated the FDH prevalence from our local cohort and nationwide registry data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Three patients had characteristic dermatological findings suspicious for FDH and confirmed by targeted\n                      <jats:italic>PORCN<\/jats:italic>\n                      analysis. One patient had an atypical presentation with several malformations but only subtle skin changes and was diagnosed following trio exome\u2010sequencing analysis. Skin atrophy with fat herniations and telangiectasias were typical cutaneous findings. Limb malformations included oligodactyly (cleft foot), syndactyly, and polydactyly. Eye abnormalities included coloboma and microphthalmos. Facial dysmorphology was defined by asymmetry, thin upper lip, and malformed ears. One patient developed a giant cell bone tumor, which is a rare feature of FDH. Dental findings included enamel hypoplasia with vertical grooving and irregular crowns. Four\n                      <jats:italic>PORCN<\/jats:italic>\n                      variants were identified, including three not previously reported in the literature.We estimated a regional point prevalence in Western Denmark of 1.6 cases per million population (95% confidence intervals (CI): 0.7\u20133.7 per million) and a nationwide registry\u2010based point prevalence of 1.2 cases per million population (95% CI: 0.6\u20132.4 per million).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>FDH is an extremely rare and complex multisystem disorder of variable presentation, which requires close multidisciplinary collaboration for diagnosis and patient care.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/pde.15752","type":"journal-article","created":{"date-parts":[[2024,9,11]],"date-time":"2024-09-11T00:40:31Z","timestamp":1726015231000},"page":"1106-1113","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single\u2010Center Report"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4852-0297","authenticated-orcid":false,"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"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7179-4643","authenticated-orcid":false,"given":"Morten Krogh","family":"Herlin","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanne","family":"Vinter","sequence":"additional","affiliation":[{"name":"Department of Pathology Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4110-7459","authenticated-orcid":false,"given":"Jenny","family":"Blechingberg","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6404-1667","authenticated-orcid":false,"given":"Brian Nauheimer","family":"Andersen","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases, Department of Pediatric and Adolescent Medicine Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0317-093X","authenticated-orcid":false,"given":"Casper","family":"Kruse","sequence":"additional","affiliation":[{"name":"Center for Oral Health in Rare Diseases, Department of Maxillofacial Surgery Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Dentistry and Oral Health Aarhus University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6310-4208","authenticated-orcid":false,"given":"Mette","family":"Sommerlund","sequence":"additional","affiliation":[{"name":"Department of Dermatology Aarhus University Hospital  Aarhus Denmark"},{"name":"Department of Clinical Medicine Aarhus University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1962.01590120006002"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819709057128"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2052"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2057"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31473"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1006437108"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/odi.12083"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21505"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31472"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31475"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31468"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31478"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31480"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2024.104937"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2024.0036"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2010.0089"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20992"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12457"},{"key":"e_1_2_10_20_1","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Sutton V. R.","year":"2023"},{"issue":"3","key":"e_1_2_10_21_1","first-page":"59","article-title":"Possible Examples of the Goltz Syndrome (Focal Dermal Hypoplasia) Without Linear Areas of Skin Hypoplasia","volume":"18","author":"Aym\u00e9 S.","year":"1982","journal-title":"Birth Defects Original Article Series"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36341"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.2009.09048.x"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003\u20104819\u201080\u20106\u2010714"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31470"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci28551"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00264\u2010006\u20100215\u20107"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15752","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,20]],"date-time":"2024-11-20T03:55:30Z","timestamp":1732074930000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15752"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,10]]},"references-count":26,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1111\/pde.15752"],"URL":"https:\/\/doi.org\/10.1111\/pde.15752","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,10]]},"assertion":[{"value":"2024-06-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-08-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}