Mazeda Inês, Vivas Inês, Ramos Sandra
Pediatrics, Unidade Local de Saúde da Póvoa de Varzim/Vila do Conde, Póvoa de Varzim, PRT.
Cureus. 2025 May 26;17(5):e84842. doi: 10.7759/cureus.84842. eCollection 2025 May.
Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by a localized absence of skin, most often affecting the scalp. Although often isolated and with a favorable prognosis, it can be associated with other anomalies, including central nervous system malformations. Cortical dysplasia represents a group of disorders caused by abnormal neuronal migration and organization and is a known risk factor for epilepsy. We report the case of a 10-month-old infant with an occipital ACC lesion present since birth. The infant underwent neuroimaging, which revealed a focal area of cortical dysplasia in the right fronto-opercular/insular region. This case highlights the importance of recognizing associated anomalies in patients with ACC and long-term follow-up in the presence of coexisting neuroimaging abnormalities.
先天性皮肤发育不全（ACC）是一种罕见的先天性异常，其特征为局部皮肤缺失，最常累及头皮。尽管ACC通常为孤立性病变且预后良好，但它可能与其他异常相关，包括中枢神经系统畸形。皮质发育异常是一组由神经元迁移和组织异常引起的疾病，是已知的癫痫风险因素。我们报告一例自出生就存在枕部ACC病变的10个月大婴儿病例。该婴儿接受了神经影像学检查，结果显示右侧额-岛盖区存在局灶性皮质发育异常。本病例强调了识别ACC患者相关异常以及在存在并存神经影像学异常时进行长期随访的重要性。
