Epidermal nevus syndrome

Subgroup with neuronal migration defects

H. El-Shanti, W. E. Bell, M. H. Waziri

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported. We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the primary central nervous system anomalies associated with this syndrome. Although attempts were made to distinguish between several variants of epidermal nevus syndrome, it is clear that these are one entity. Proteus syndrome, encephalocraniocutaneous lipomatosis, and epidermal nevus syndrome have several overlapping phenotypic features. We suggest that they represent a phenotypic continuum, which in turn suggests a common pathogenetic process. While the cause of these syndromes is unknown, observations point to a somatic mutation leading to variable patterns of mosaicism.

Original languageEnglish
Pages (from-to)29-34
Number of pages6
JournalJournal of Child Neurology
Volume7
Issue number1
Publication statusPublished - 1992
Externally publishedYes

Fingerprint

Nervous System Malformations
Proteus Syndrome
Mosaicism
Intellectual Disability
Seizures
Central Nervous System
Magnetic Resonance Imaging
Epidermal Nevus
Mutation
Brain
Facial Hemihypertrophy
Encephalocraniocutaneous lipomatosis

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

El-Shanti, H., Bell, W. E., & Waziri, M. H. (1992). Epidermal nevus syndrome: Subgroup with neuronal migration defects. Journal of Child Neurology, 7(1), 29-34.

Epidermal nevus syndrome : Subgroup with neuronal migration defects. / El-Shanti, H.; Bell, W. E.; Waziri, M. H.

In: Journal of Child Neurology, Vol. 7, No. 1, 1992, p. 29-34.

Research output: Contribution to journalArticle

El-Shanti, H, Bell, WE & Waziri, MH 1992, 'Epidermal nevus syndrome: Subgroup with neuronal migration defects', Journal of Child Neurology, vol. 7, no. 1, pp. 29-34.
El-Shanti, H. ; Bell, W. E. ; Waziri, M. H. / Epidermal nevus syndrome : Subgroup with neuronal migration defects. In: Journal of Child Neurology. 1992 ; Vol. 7, No. 1. pp. 29-34.
@article{3a81db5ecd884fa89991d647eccdfcaa,
title = "Epidermal nevus syndrome: Subgroup with neuronal migration defects",
abstract = "Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported. We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the primary central nervous system anomalies associated with this syndrome. Although attempts were made to distinguish between several variants of epidermal nevus syndrome, it is clear that these are one entity. Proteus syndrome, encephalocraniocutaneous lipomatosis, and epidermal nevus syndrome have several overlapping phenotypic features. We suggest that they represent a phenotypic continuum, which in turn suggests a common pathogenetic process. While the cause of these syndromes is unknown, observations point to a somatic mutation leading to variable patterns of mosaicism.",
author = "H. El-Shanti and Bell, {W. E.} and Waziri, {M. H.}",
year = "1992",
language = "English",
volume = "7",
pages = "29--34",
journal = "Journal of Child Neurology",
issn = "0883-0738",
publisher = "SAGE Publications Inc.",
number = "1",

}

TY - JOUR

T1 - Epidermal nevus syndrome

T2 - Subgroup with neuronal migration defects

AU - El-Shanti, H.

AU - Bell, W. E.

AU - Waziri, M. H.

PY - 1992

Y1 - 1992

N2 - Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported. We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the primary central nervous system anomalies associated with this syndrome. Although attempts were made to distinguish between several variants of epidermal nevus syndrome, it is clear that these are one entity. Proteus syndrome, encephalocraniocutaneous lipomatosis, and epidermal nevus syndrome have several overlapping phenotypic features. We suggest that they represent a phenotypic continuum, which in turn suggests a common pathogenetic process. While the cause of these syndromes is unknown, observations point to a somatic mutation leading to variable patterns of mosaicism.

AB - Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported. We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the primary central nervous system anomalies associated with this syndrome. Although attempts were made to distinguish between several variants of epidermal nevus syndrome, it is clear that these are one entity. Proteus syndrome, encephalocraniocutaneous lipomatosis, and epidermal nevus syndrome have several overlapping phenotypic features. We suggest that they represent a phenotypic continuum, which in turn suggests a common pathogenetic process. While the cause of these syndromes is unknown, observations point to a somatic mutation leading to variable patterns of mosaicism.

UR - http://www.scopus.com/inward/record.url?scp=0026557287&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026557287&partnerID=8YFLogxK

M3 - Article

VL - 7

SP - 29

EP - 34

JO - Journal of Child Neurology

JF - Journal of Child Neurology

SN - 0883-0738

IS - 1

ER -