Epilepsy in Epidermal Nevus Syndromes: Review.

Area of Science:

• Neurocutaneous syndromes
• Dermatology
• Neurology

Background:

• Epidermal nevus syndromes (ENS) are a diverse group of neurocutaneous disorders characterized by epidermal hamartomas and extracutaneous manifestations.
• Epilepsy is a common and disabling complication of ENS, yet the genotype-phenotype correlation remains unclear.

Purpose of the Study:

• To provide a comprehensive overview of the neurologic manifestations of ENS, with a specific focus on epilepsy.
• To systematically analyze the epileptogenic potential across 10 well-defined ENS subtypes.

Main Methods:

• Systematic review of the literature on neurologic manifestations and epilepsy in ENS.
• Detailed examination of seizure types, EEG findings, and associated brain anomalies (e.g., hemimegalencephaly, cortical dysplasia).
• Focus on high-seizure burden subtypes: keratinocytic epidermal nevus syndrome, nevus sebaceus syndrome, phakomatosis pigmentokeratotica, nevus comedonicus syndrome, and angora hair nevus syndrome.

Main Results:

• ENS subtypes exhibit distinct seizure characteristics, EEG patterns, and neuroimaging findings.
• Specific ENS subtypes, including keratinocytic epidermal nevus syndrome and nevus sebaceus syndrome, are associated with a high epilepsy burden.
• Common structural brain anomalies include hemimegalencephaly, cortical dysplasia, and neuronal heterotopias.

Conclusions:

• Early diagnosis and multidisciplinary management are crucial for optimizing seizure control and neurologic outcomes in patients with ENS.
• Understanding the relationship between genotype, cutaneous phenotype, and seizure phenotype is essential for targeted therapies.
• Current management includes medical, surgical, and emerging molecular targeted therapies for epilepsy in ENS.