Mihçi Ercan, Erişir Seyhan, Taçoy Sükran, Lüleci Güven, Alpsoy Erkan, Oygür Nihal
Division of Clinical Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey.
Turk J Pediatr. 2009 Sep-Oct;51(5):510-4.
Aplasia cutis congenita (ACC) is an uncommon condition in which localized or widespread areas of skin are absent or scarred at birth. There is no single underlying cause of ACC, as it simply represents a physical finding that reflects a disruption of intrauterine skin development. Here we report three cases of ACC of the scalp with three different etiologies: congenital rubella syndrome, trisomy 13 and fetal valproate syndrome. The aim of the present report is to increase awareness of these skin defects and emphasize the importance of underlying etiologies.
先天性皮肤发育不全（ACC）是一种罕见的病症，出生时局部或广泛区域的皮肤缺失或留有瘢痕。ACC没有单一的潜在病因，它仅仅是一种反映子宫内皮肤发育中断的体征。在此我们报告三例头皮ACC病例，病因各不相同：先天性风疹综合征、13三体综合征和胎儿丙戊酸盐综合征。本报告的目的是提高对这些皮肤缺陷的认识，并强调潜在病因的重要性。
