Focal Cortical Dysplasia in an Infant With Aplasia Cutis Congenita: A Case Report

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.

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Publication Details

Journal
Cureus
Published
2025-05-26
DOI
https://doi.org/10.7759/cureus.84842
Primary Topic
Skin and Cellular Biology Research
Type
article
Field-Weighted Citation Impact
0.00
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article

Focal Cortical Dysplasia in an Infant With Aplasia Cutis Congenita: A Case Report

Sandra Ramos, Inês Mazeda, Inês Vivas
Cureus
Skin and Cellular Biology Research
article

Focal Cortical Dysplasia in an Infant With Aplasia Cutis Congenita: A Case Report

Sandra Ramos, Inês Mazeda, Inês Vivas
article en

Abstract

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.

CureusVol. 17(5)
Secretaria da Saúde (BR)
Openalex Percentile: Top 88%
Skin and Cellular Biology Research
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