Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.
Children's Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia.
J Eur Acad Dermatol Venereol. 2023 Mar;37(3):581-589. doi: 10.1111/jdv.18690. Epub 2022 Nov 11.
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.
This study aimed to investigate the epidemiology of ACC, using data from a large European network of population-based registries for congenital anomalies (EUROCAT).
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.
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.
To our knowledge, this is the only population-based study on ACC. The EUROCAT methodologies provide reliable prevalence estimates and proportions of associated anomalies.
先天性皮肤发育不全（ACC）是一种罕见的先天性畸形，其特征是出生时局部或广泛缺乏皮肤，主要影响头皮。大多数关于 ACC 的信息都是作为个案报告和中等规模的研究存在的。
本研究旨在利用欧洲基于人群的先天性畸形登记处（EUROCAT）的大型欧洲网络数据，调查 ACC 的流行病学。
28 个 EUROCAT 基于人群的登记处来自欧洲 16 个国家。利用泊松回归模型估计总体和活产儿患病率，检验四个 5 年期间患病率的时间趋势，并评估 ACC 编码从 ICD9-BPA 非特异性代码向 ICD10 特异性代码改变的影响。报告了与其他畸形相关的 ACC 病例的比例。
1998-2017 年期间共发现 500 例病例（患病率：5.10/100000 活产儿）。5 年期间的患病率没有显著差异，由于 ACC 编码从 ICD9 改为 ICD10，也没有明显差异。各登记处之间的患病率存在异质性。头皮是 ACC 最常见的部位（96.4%），33.8%的病例存在先天性畸形。Patau 和 Adams-Oliver 综合征分别是最常见的染色体异常（88.3%）和相关遗传综合征（57.7%）。16%的病例与肢体畸形有关，15.4%与先天性心脏病有关。2%的病例有 ACC 的家族史。
据我们所知，这是唯一一项关于 ACC 的基于人群的研究。EUROCAT 方法提供了可靠的患病率估计和相关畸形的比例。
