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Epidemiology of aplasia cutis congenita: A populationā€based study in Europe

2022-10-27Journal article Restricted access
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dc.contributor.authorCoi, Alessio
dc.contributor.authorBarisic, Ingeborg
dc.contributor.authorGarne, Ester
dc.contributor.authorPierini, Anna
dc.contributor.authorAddor, Marieā€Claude
dc.contributor.authorAizpurua Atxega, Amaia
dc.contributor.authorBallardini, Elisa
dc.contributor.authorBraz, Paula
dc.contributor.authorBroughan, Jennifer M.
dc.contributor.authorCaveroā€Carbonell, Clara
dc.contributor.authorde Walle, Hermien E.K.
dc.contributor.authorDraper, Elizabeth S.
dc.contributor.authorGatt, Miriam
dc.contributor.authorHƤusler, Martin
dc.contributor.authorKinsnerā€Ovaskainen, Agnieszka
dc.contributor.authorKurinczuk, Jennifer J.
dc.contributor.authorLelong, Nathalie
dc.contributor.authorLuyt, Karen
dc.contributor.authorMezzasalma, Lorena
dc.contributor.authorMullaney, Carmel
dc.contributor.authorNelen, Vera
dc.contributor.authorOdak, Ljubica
dc.contributor.authorO'Mahony, Mary T.
dc.contributor.authorPerthus, Isabelle
dc.contributor.authorRandrianaivo, Hanitra
dc.contributor.authorRankin, Judith
dc.contributor.authorRissmann, Anke
dc.contributor.authorRouget, Florence
dc.contributor.authorSchaub, Bruno
dc.contributor.authorTucker, David
dc.contributor.authorWellesley, Diana
dc.contributor.authorWiśniewska, Katarzyna
dc.contributor.authorYevtushok, Lyubov
dc.contributor.authorSantoro, Michele
dc.date.accessioned2023-01-11T11:20:50Z
dc.date.available2023-01-11T11:20:50Z
dc.date.issued2022-10-27
dc.description.abstractBackground: 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-sized studies. Objectives: This study aimed to investigate the epidemiology of ACC, using data from a large European network of population-based registries for congenital anomalies (EUROCAT). Methods: Twenty-eight EUROCAT population-based 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-year periods and to evaluate the impact of the change of coding for ACC from the unspecific ICD9-BPA code to the specific ICD10 code. Proportions of ACC cases associated with other anomalies were reported. Results: Five hundred cases were identified in the period 1998-2017 (prevalence: 5.10 per 100,000 births). Prevalence across 5-year 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-Oliver 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. Conclusion: To our knowledge, this is the only population-based study on ACC. The EUROCAT methodologies provide reliable prevalence estimates and proportions of associated anomalies.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Eur Acad Dermatol Venereol . 2022 Oct 27. doi: 10.1111/jdv.18690. Online ahead of print.pt_PT
dc.identifier.doi10.1111/jdv.18690pt_PT
dc.identifier.issn0926-9959
dc.identifier.urihttp://hdl.handle.net/10400.18/8423
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/10.1111/jdv.18690pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectAplasia Cutispt_PT
dc.subjectAplasia Cutis Congenitapt_PT
dc.subjectRare Congenital Anomaliespt_PT
dc.subjectEuropept_PT
dc.subjectEUROCATpt_PT
dc.subjectEuropean Surveillance of Congenital Anomaliespt_PT
dc.subjectRENACpt_PT
dc.subjectRegisto Nacional de Anomalias CongƩnitaspt_PT
dc.subjectObservaĆ§Ć£o em SaĆŗde e VigilĆ¢nciapt_PT
dc.subjectEstados de SaĆŗde e de DoenƧapt_PT
dc.titleEpidemiology of aplasia cutis congenita: A populationā€based study in Europept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleJournal of the European Academy of Dermatology and Venereologypt_PT
person.familyNameBraz
person.givenNamePaula
person.identifier.orcid0000-0003-3043-2827
rcaap.embargofctAcesso de acordo com polĆ­tica editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationa9cd25a1-e308-4175-9338-802416a5a706
relation.isAuthorOfPublication.latestForDiscoverya9cd25a1-e308-4175-9338-802416a5a706

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