Epidemiology of aplasia cutis congenita: A population‐based study in Europe

Abstract

Background 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.

Aplasia cutis congenita type VII of the lower extremity: a favourable disease course with minimal conservative treatment

“…Histopathological findings are non-specific 5. The aetiology of ACC is unknown 2. The most widely accepted pathophysiological model describes a disruption of skin during fetal development 6.…”

“…Aplasia cutis congenita (ACC) is a group of rare heterogeneous disorders characterised by localised or widespread areas of skin defects at birth 1. The prevalence is estimated to be 5.1 in 100.000 births 2. Lesions may occur at various depths with sometimes even the complete absence of bone tissue 2.…”

“…Lesions may occur at various depths with sometimes even the complete absence of bone tissue 2. ACC may occur as an isolated finding or in association with genetic syndromes with impaired development 2. The majority of cases (96.4%) appear in the scalp region 2.…”

“…ACC may occur as an isolated finding or in association with genetic syndromes with impaired development 2. The majority of cases (96.4%) appear in the scalp region 2. ACC involving the limbs often occurs bilaterally 3.…”

Cohort profile: the National Congenital Anomaly Registration Dataset in England

“…Many publications use datasets that predate NCARDRS including the legacy regional registers. NCARDRS data have been used to examine the epidemiology of congenital anomalies across Europe including Dandy-Walker syndrome,27 VACTERL association,28 29 neural tube defects,30 aplasia cutis31 achondroplasia32 and vascular disruption anomalies 33. Studies aim to improve outcomes of babies with a congenital anomaly and to inform policy so that some may be prevented, for example, to justify the fortification of flour with folic acid.…”