Epidemiology of congenital skin aplasia in Europe

by time news

Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by a localized or more extensive absence of skin at birth, primarily affecting the scalp. Given the rarity of the condition, most information about ACC comes from case reports and a few smaller studies. The study described here aimed to investigate the epidemiology of ACC using data from a large European network of population-based birth defect registries (EUROCAT).

Data were included from 28 EUROCAT registers from 16 European countries. Poisson regression models were used to estimate prevalence, to test time trends in prevalence between 4 5-year periods, and to evaluate the impact of the change in coding for ACC from the non-specific ICD9-BPA code to the specific ICD10 code.

In the period 1998-2017, 500 cases of ACC were diagnosed (prevalence: 5.10 per 100,000 births). Prevalence did not vary significantly over time and no significant differences were apparent due to the change in ACC coding from ICD9 to ICD10. However, there was considerable heterogeneity in the prevalence of ACC between the 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 common among associated chromosomal abnormalities (88.3%) and associated genetic syndromes (57.7%), respectively. 16% of cases were associated with limb abnormalities and 15.4% with congenital heart defects. A family history of ACC was found in 2% of cases.

Bron:

Coi A, Barisic I, Garne E, et al. Epidemiology of aplasia cutis congenita: A population-based study in Europe. J Eur Acad Dermatol Venereol. 2022 Oct 27. Online ahead of print.

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