Aplasia cutis congenita (ACC) is a rare congenital anomaly (CA) characterized by a localized or widespread absence of skin at birth, mainly affecting the scalp. Most information about ACC exists as individual case reports and in some medium-scale studies. This study aimed to investigate the epidemiology of ACC, based on a large European network of population-based registries for congenital anomalies (EUROCAT). Twenty-eight EUROCAT registries in 16 European countries participated in the study. Five hundred ACC cases were identified in the period 1998-2017 (prevalence: 5.10 per 100,000 births). Prevalence across 5-years periods did not differ significantly and no significant differences were evidenced due to the change from ICD9 to ICD10 in ACC coding. A heterogeneity in prevalence was observed across Europe. The scalp was the most common site for ACC (96.4%) and associated CAs were present in 33.8% of cases. Patau and Adams-Oliver syndromes were the most frequent among the associated chromosomal anomalies (88.3%) and genetic syndromes (57.7%), respectively. 16% of ACC cases were associated with limb anomalies and 15.4% with congenital heart defects. A family history of ACC was found in 2% of cases. To our knowledge, this is the only population-based study on ACC. The EUROCAT methodologies provide reliable prevalence estimates and the proportion of associated anomalies.
COI Alessio;
BARISIC Ingeborg;
GARNE Ester;
PIERINI Anna;
ADDOR Marie-Claude;
AIZPURUA ATXEGA Amaia;
BALLARDINI Elisa;
BRAZ Paula;
BROUGHAN Jennifer;
CAVERO-CARBONELL Clara;
DE WALLE Hermien;
DRAPER Elizabeth;
GATT Miriam;
HAEUSLER Martin;
KINSNER-OVASKAINEN Agnieszka;
KURINCZUK Jennifer;
LELONG Natalie;
LUYT Karen;
MEZZASALMA Lorena;
MULLANEY Carmel;
NELEN Vera;
ODAK Ljubica;
O'MAHONY Marie T.;
PERTHUS Isabelle;
RANDRIANAIVO Hanitra;
RANKIN Judith;
RISSMANN Anke;
ROUGET Florence;
SCHAUB Bruno;
TUCKER David;
WELLESLEY Diana;
WIŚNIEWSKA Katarzyna;
YEVTUSHOK Lyubov;
SANTORO Michele;
2023-07-04
WILEY
JRC130117
0926-9959 (online),
https://onlinelibrary.wiley.com/doi/10.1111/jdv.18690,
https://publications.jrc.ec.europa.eu/repository/handle/JRC130117,
10.1111/jdv.18690 (online),
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