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Epidermal nevus syndrome
1Departments of Clinical Neurosciences and Paediatrics, Division of Paediatric Neurology, University of Calgary, Alberta Children's Hospital, Calgary, Canada.
Handbook of Clinical Neurology
|April 30, 2013
Summary
Epidermal nevus syndrome (ENS) involves epidermal nevi and systemic issues, often linked to neural crest defects. Hemimegalencephaly is a key brain anomaly causing epilepsy and developmental delays in ENS patients.
Area of Science:
- Neurocutaneous syndromes
- Developmental biology
- Genetics
Background:
- Epidermal nevus syndrome (ENS) is a group of congenital disorders.
- Characterized by epidermal nevi and systemic involvement.
- Considered primary neurocutaneous syndromes originating from neurocristopathies.
Observation:
- Epidermal nevi follow Blaschko lines.
- Systemic anomalies affect skeletal, ocular, cardiovascular, endocrine, and orodental tissues.
- Lipomas are also associated with ENS.
Findings:
- Hemimegalencephaly (HME) is the most frequent brain anomaly in ENS.
- HME is often unrecognized but causes epilepsy and developmental delay/intellectual disability.
- Epilepsy, particularly infantile spasms, typically begins in early infancy.
Implications:
- Proposed term "Heide's syndrome" for cases with hemifacial epidermal nevus, ipsilateral facial lipoma, and HME.
- Most ENS cases are sporadic, likely due to genetic mosaicism.
- Genetic mutations in PTEN, FGFR3, PIK3CA, and AKT1 are identified in some patients.
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