{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T23:41:36Z","timestamp":1792194096121,"version":"4.4.0"},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,11,11]],"date-time":"2022-11-11T00:00:00Z","timestamp":1668124800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2022,11,11]],"date-time":"2022-11-11T00:00:00Z","timestamp":1668124800000},"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":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2023,3]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by localized or widespread absence of skin at birth, mainly affecting the scalp. Most information about ACC exists as individual case reports and medium\u2010sized studies.<\/jats:p>\n <\/jats:sec>\n \n Objectives<\/jats:title>\n This study aimed to investigate the epidemiology of ACC, using data from a large European network of population\u2010based registries for congenital anomalies (EUROCAT).<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Twenty\u2010eight EUROCAT population\u2010based registries in 16 European countries were involved. Poisson regression models were exploited to estimate the overall and live birth prevalence, to test time trends in prevalence between four 5\u2010year periods and to evaluate the impact of the change of coding for ACC from the unspecific ICD9\u2010BPA code to the specific ICD10 code. Proportions of ACC cases associated with other anomalies were reported.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n Five hundred cases were identified in the period 1998\u20132017 (prevalence: 5.10 per 100,000 births). Prevalence across 5\u2010year periods did not differ significantly and no significant differences were evident due to the change from ICD9 to ICD10 in ACC coding. Heterogeneity in prevalence was observed across registries. The scalp was the most common site for ACC (96.4%) and associated congenital anomalies were present in 33.8% of cases. Patau and Adams\u2013Oliver syndromes were the most frequent among the associated chromosomal anomalies (88.3%) and the associated genetic syndromes (57.7%), respectively. 16% of cases were associated with limb anomalies and 15.4% with congenital heart defects. A family history of ACC was found in 2% of cases.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n To our knowledge, this is the only population\u2010based study on ACC. The EUROCAT methodologies provide reliable prevalence estimates and proportions of associated anomalies.<\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/jdv.18690","type":"journal-article","created":{"date-parts":[[2022,10,27]],"date-time":"2022-10-27T06:52:36Z","timestamp":1666853556000},"page":"581-589","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Epidemiology of aplasia cutis congenita: A population\u2010based study in Europe"],"prefix":"10.1111","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9816-3144","authenticated-orcid":false,"given":"Alessio","family":"Coi","sequence":"first","affiliation":[{"name":"Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology National Research Council Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingeborg","family":"Barisic","sequence":"additional","affiliation":[{"name":"Children's Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative Medicine Medical School University of Zagreb Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ester","family":"Garne","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Lillebaelt Hospital University Hospital of Southern Denmark Kolding Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pierini","sequence":"additional","affiliation":[{"name":"Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology National Research Council Pisa Italy"},{"name":"Fondazione Toscana Gabriele Monasterio Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Claude","family":"Addor","sequence":"additional","affiliation":[{"name":"Department of Woman\u2010Mother\u2010Child University Medical Center CHUV Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amaia","family":"Aizpurua Atxega","sequence":"additional","affiliation":[{"name":"Public Health Division of Gipuzkoa Biodonostia Research Institute Donostia\u2010San Sebastian Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Ballardini","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Paediatric Section, IMER Registry (Emilia Romagna Registry of Birth Defects), Department of Medical Sciences University of Ferrara Ferrara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Braz","sequence":"additional","affiliation":[{"name":"Epidemiology Department National Institute of Health Doutor Ricardo Jorge Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer M.","family":"Broughan","sequence":"additional","affiliation":[{"name":"National Congenital Anomaly and Rare Disease Registration Service, National Disease Registration Service, NHS Digital Leeds UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Cavero\u2010Carbonell","sequence":"additional","affiliation":[{"name":"Rare Diseases Research Unit Foundation for the Promotion of Health and Biomedical Research in the Valencian Region Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hermien E. K.","family":"de Walle","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Groningen University of Groningen Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth S.","family":"Draper","sequence":"additional","affiliation":[{"name":"Department Health Sciences, College of Life Sciences University of Leicester Leicester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Gatt","sequence":"additional","affiliation":[{"name":"Malta Congenital Anomalies Registry, Directorate for Health Information and Research G'Mangia Malta"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"H\u00e4usler","sequence":"additional","affiliation":[{"name":"Medical University of Graz Graz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Kinsner\u2010Ovaskainen","sequence":"additional","affiliation":[{"name":"European Commission, Joint Research Centre (JRC) Ispra Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer J.","family":"Kurinczuk","sequence":"additional","affiliation":[{"name":"National Perinatal Epidemiology Unit, Nuffield Department of Population Health University of Oxford Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Lelong","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, Inserm, INRAE, Centre for Research in Epidemiology and StatisticS (CRESS), Obstetrical Perinatal and Pediatric Epidemiology Research Team, EPOP\u00e9 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Luyt","sequence":"additional","affiliation":[{"name":"South West Congenital Anomaly Register, Bristol Medical School University of Bristol Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Mezzasalma","sequence":"additional","affiliation":[{"name":"Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology National Research Council Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmel","family":"Mullaney","sequence":"additional","affiliation":[{"name":"Department of Public Health, HSE South East, Lacken Kilkenny Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Nelen","sequence":"additional","affiliation":[{"name":"Provincial Institute of Hygiene Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ljubica","family":"Odak","sequence":"additional","affiliation":[{"name":"Children's Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative Medicine Medical School University of Zagreb Zagreb Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary T.","family":"O'Mahony","sequence":"additional","affiliation":[{"name":"Department of Public Health, HSE South (Cork & Kerry) Cork Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Perthus","sequence":"additional","affiliation":[{"name":"Auvergne Registry of Congenital Anomalies (CEMC\u2010Auvergne), Department of Clinical Genetics, Centre de R\u00e9f\u00e9rence des Maladies Rares University Hospital of Clermont\u2010Ferrand Clermont\u2010Ferrand France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanitra","family":"Randrianaivo","sequence":"additional","affiliation":[{"name":"Register of Congenital Malformations Isle of Reunion Island, CHU St Pierre, la Reunion Reunion France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Rankin","sequence":"additional","affiliation":[{"name":"National Congenital Anomaly and Rare Disease Registration Service, National Disease Registration Service, NHS Digital Leeds UK"},{"name":"Population Health Sciences Institute Newcastle University Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anke","family":"Rissmann","sequence":"additional","affiliation":[{"name":"Malformation Monitoring Centre Saxony\u2010Anhalt, Medical Faculty Otto\u2010von\u2010Guericke University Magdeburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Rouget","sequence":"additional","affiliation":[{"name":"Brittany Registry of Congenital Anomalies, CHU Rennes, Univ Rennes, Inserm, EHESP, IRSET (Institut de Recherche en Sant\u00e9, Environnement et Travail) \u2013 UMR_S 1085 Rennes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Schaub","sequence":"additional","affiliation":[{"name":"French West Indies Registry, Registre des Malformations des Antilles (REMALAN), Maison de la Femme de la M\u00e8re et de l'Enfant University Hospital of Martinique Fort\u2010de\u2010France France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Tucker","sequence":"additional","affiliation":[{"name":"Congenital Anomaly Register & Information Service for Wales (CARIS), Public Health Wales Swansea UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Wellesley","sequence":"additional","affiliation":[{"name":"University Hospital Southampton, Faculty of Medicine and Wessex Clinical Genetics Service, Princess Anne Hospital Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Wi\u015bniewska","sequence":"additional","affiliation":[{"name":"Epidemiology Unit, Department of Preventive Medicine Poznan University of Medical Sciences Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyubov","family":"Yevtushok","sequence":"additional","affiliation":[{"name":"OMNI\u2010Net Ukraine Birth Defects Program and Rivne Regional Medical Diagnostic Center Rivne Ukraine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Santoro","sequence":"additional","affiliation":[{"name":"Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology National Research Council Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,11,11]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1053\/jpsu.2003.50064"},{"key":"e_1_2_11_3_1","unstructured":"Orphanet.Aplasia cutis congenita.https:\/\/www.orpha.net\/consor\/cgi\u2010bin\/Disease_Search.php?lng=EN&data_id=3198&Disease_Disease_Search_diseaseGroup=1114&Disease_Disease_Search_diseaseType=ORPHA&Disease(s)\/group%20of%20diseases=Aplasia\u2010cutis\u2010congenita&title=Aplasia%20cutis%20congenita&search=Disease_Search_Simple; (2019). Accessed 14 March 2022."},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(86)70082-0"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.12707"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.14331"},{"key":"e_1_2_11_7_1","volume-title":"Aplasia Cutis Congenita","author":"Brackenrich J","year":"2022"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.12741"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.16290"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003573"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1995.01690240091015"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.3315\/jdcr.2013.1148"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0126610"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1771"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-002-0654-4"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.2004.00347.x"},{"issue":"5","key":"e_1_2_11_17_1","first-page":"510","article-title":"Aplasia cutis congenita: three cases with three different underlying etiologies","volume":"51","author":"Mih\u00e7i E","year":"2009","journal-title":"Turk J Pediatr"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1757-1626-2-150"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.prp.2009.12.011"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.3892\/etm.2015.2737"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.13611"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2017.142"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.16542"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14117"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-020-0789-5"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.14192"},{"key":"e_1_2_11_27_1","unstructured":"EUROCAT Guide 1.4: Instruction for the registration of congenital anomalies. EUROCAT Central Registry. University of Ulster;2021.https:\/\/eu\u2010rd\u2010platform.jrc.ec.europa.eu\/eurocat\/data\u2010collection\/guidelines\u2010for\u2010data\u2010registration_en. Accessed 14 March 2022."},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20780"},{"key":"e_1_2_11_29_1","unstructured":"EUROCAT.Members Registries.https:\/\/eu\u2010rd\u2010platform.jrc.ec.europa.eu\/eurocat\/eurocat\u2010members\/registries_en. Accessed 14 March 2022."},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.03.008"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-018-0367-3"},{"key":"e_1_2_11_32_1","volume-title":"Stata Statistical Software: Release 16","author":"StataCorp","year":"2019"},{"key":"e_1_2_11_33_1","unstructured":"Orphanet Report Series.Prevalence incidence or reported number of published cases listed in alphabetical order of disease January 2022.https:\/\/www.orpha.net\/orphacom\/cahiers\/docs\/GB\/Prevalence_of_rare_diseases_by_alphabetical_list.pdf."},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/dth.12106"}],"container-title":["Journal of the European Academy of Dermatology and Venereology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jdv.18690","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/jdv.18690","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jdv.18690","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T13:59:07Z","timestamp":1791813547000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jdv.18690"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,11]]},"references-count":33,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1111\/jdv.18690"],"URL":"https:\/\/doi.org\/10.1111\/jdv.18690","archive":["Portico"],"relation":{},"ISSN":["0926-9959","1468-3083"],"issn-type":[{"value":"0926-9959","type":"print"},{"value":"1468-3083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,11]]},"assertion":[{"value":"2022-07-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-10-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}