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Hemimegalencephalic variant of epidermal nevus syndrome: case report and literature review.

Abstract
The epidermal nevus syndrome (ENS) is an uncommon neurocutaneous disorder in which epidermal nevi are found in association with congenital abnormalities of the brain, eye, and/or skeleton. The association of epidermal nevi and neurologic abnormalities was comprehensively described by Schimmelpenning in 1957. Pavone et al. (1991) identified a homogeneous variant of ENS with hemimegalencephaly, gyral malformation, mental retardation, seizures and facial hemihypertrophy. A 13-year-old boy with the neurologic variant of ENS with hemimegalencephaly, facial asymmetry, febrile seizures and mental retardation is reported. Additionally, we performed a literature review using the search terms "epidermal nevus syndrome" and "hemimegalencephaly", including secondary sources of data such as reference lists of articles reviewed. We found 57 previously reported cases with the hemimegalencephalic variant of epidermal nevus syndrome, in which the most frequent associated features are severe epilepsy, in about half of cases with neonatal onset, mental retardation/developmental delay, ocular/visual involvement, and facial abnormalities.
AuthorsElena Pavlidis, Gaetano Cantalupo, Sonia Boria, Giuseppe Cossu, Francesco Pisani
JournalEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (Eur J Paediatr Neurol) Vol. 16 Issue 4 Pg. 332-42 (Jul 2012) ISSN: 1532-2130 [Electronic] England
PMID22200538 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Topics
  • Adolescent
  • Developmental Disabilities (etiology)
  • Electroencephalography
  • Epilepsy (complications)
  • Face (abnormalities)
  • Head (pathology)
  • Humans
  • Intellectual Disability (etiology)
  • Male
  • Malformations of Cortical Development (etiology, pathology)
  • Nervous System Diseases (etiology)
  • Nevus, Intradermal (complications)
  • Nevus, Sebaceous of Jadassohn (complications)
  • Skin (pathology)
  • Skin Neoplasms (complications)

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