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

**Authors:** Inês Mazeda, Inês Vivas, Sandra Ramos

PMC · DOI: 10.7759/cureus.84842 · Cureus · 2025-05-26

## TL;DR

This case report describes an infant with a rare skin condition and a brain abnormality linked to epilepsy.

## Contribution

The novelty lies in highlighting a rare association between aplasia cutis congenita and focal cortical dysplasia in an infant.

## Key findings

- An infant with scalp aplasia cutis congenita had focal cortical dysplasia detected via neuroimaging.
- The cortical dysplasia was located in the right fronto-opercular/insular region.
- The case emphasizes the need for neuroimaging and follow-up in ACC patients with neuroimaging abnormalities.

## 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.

## Linked entities

- **Diseases:** aplasia cutis congenita (MONDO:0007145), epilepsy (MONDO:0005027)

## Full-text entities

- **Diseases:** absence (MESH:D004832), epilepsy (MESH:D004827), neuroimaging abnormalities (MESH:D000014), Focal Cortical Dysplasia (MESH:D000092222), ACC (MESH:D004476), central nervous system malformations (MESH:D020785), Cortical dysplasia (MESH:D054220), congenital anomaly (MESH:D000013)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12191410/full.md

## References

12 references — full list in the complete paper: https://tomesphere.com/paper/PMC12191410/full.md

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Source: https://tomesphere.com/paper/PMC12191410