Department of Paediatrics, National Hospital Abuja, Abuja, Nigeria.
Neonatology Division, National Hospital Abuja, Abuja, Nigeria.
Pan Afr Med J. 2020 Aug 17;36:291. doi: 10.11604/pamj.2020.36.291.24523. eCollection 2020.
Aplasia cutis congenita is a rare congenital abnormality first described in 1767 by cordon. It mostly appears as a solitary lesion involving various layers of the skin and sometimes the bone on the scalp, limbs or abdomen. Genetics, environmental and exogenous causes have been implicated as potential causes. Only about 500 cases have been reported globally as of 2013. Two cases of Aplasia Cutis Congenita (ACC) who presented with scalp and bone defects at birth are reported, one in a syndromic child delivered to a consanguineous family, with associated cardiac, skin and nail anomalies (likely Adams Oliver syndrome) and the other as an isolated scalp lesion. Both were large defects managed conservatively by a multidisciplinary team. The challenges of investigating and managing such complex scalp anomalies in sub-Saharan Africa are highlighted.
先天性皮肤发育不全是一种罕见的先天性畸形，于 1767 年由科登首次描述。它主要表现为单一病变，累及头皮、四肢或腹部的皮肤各层，有时还累及骨骼。遗传学、环境和外源性因素都被认为是潜在的原因。截至 2013 年，全球仅报道了约 500 例病例。报告了 2 例先天性皮肤发育不全（ACC）病例，出生时即出现头皮和骨骼缺损，1 例发生于近亲家庭的综合征患儿，伴有心脏、皮肤和指甲异常（可能为亚当斯-奥利弗综合征），另 1 例为孤立性头皮病变。这两个病例均为大型缺损，由多学科团队保守治疗。强调了在撒哈拉以南非洲地区调查和管理此类复杂头皮畸形的挑战。
