Epidemiology of aplasia cutis congenita: a population-based study in Europe

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),