Epidermal nevus syndrome: A neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy

L. Pavone, P. Curatolo, R. Rizzo, G. Micali, G. Incorpora, B. P. Garg, David Dunn, W. B. Dobyns

Research output: Contribution to journalArticle

127 Citations (Scopus)

Abstract

The epidermal nevus syndrome (ENS) is a sporadic neurocutaneous disorder that consists of epidermal nevi and congenital anomalies involving the brain and other systems. From among over 60 patients with ENS presenting with neurologic manifestations, we identified 17 who had hemimegalencephaly based on pathologic or radiologic studies. Associated brain and neurologic abnormalities included gyral malformations in 12 of 12, mental retardation in 13 of 14, seizures in 16 of 17 (including 9 with infantile spasms), and contralateral hemiparesis in 7 of 12. All had ipsilateral epidermal nevi of the head, and several had ipsilateral facial hemihypertrophy. We concluded that these abnormalities comprise a recognizable neurologic variant of ENS that we believe represents the full expression of primary brain involvement. Several patients also had evidence of acquired brain lesions such as infarcts, atrophy, porencephaly, and calcifications, which are best explained by prior ischemia or hemorrhage. Given repeated observations of blood vessel anomalies in ENS patients, we hypothesize that underlying vascular dysplasia predisposes to these acquired lesions. The same cause may be invoked to explain the wide variety of neurologic symptoms reported in ENS patients without hemimegalencephaly. While the cause of ENS remains unknown, several observations suggest a somatic mutation.

Original languageEnglish
Pages (from-to)266-271
Number of pages6
JournalNeurology
Volume41
Issue number2
StatePublished - 1991

Fingerprint

Intellectual Disability
Nervous System
Seizures
Brain
Neurologic Manifestations
Blood Vessels
Neurocutaneous Syndromes
Nervous System Malformations
Infantile Spasms
Facial Hemihypertrophy
Epidermal Nevus
Hemimegalencephaly
Mental Retardation
Syndrome
Paresis
Atrophy
Ischemia
Head
Hemorrhage
Mutation

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Neuroscience(all)

Cite this

Pavone, L., Curatolo, P., Rizzo, R., Micali, G., Incorpora, G., Garg, B. P., ... Dobyns, W. B. (1991). Epidermal nevus syndrome: A neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. Neurology, 41(2), 266-271.

Epidermal nevus syndrome : A neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. / Pavone, L.; Curatolo, P.; Rizzo, R.; Micali, G.; Incorpora, G.; Garg, B. P.; Dunn, David; Dobyns, W. B.

In: Neurology, Vol. 41, No. 2, 1991, p. 266-271.

Research output: Contribution to journalArticle

Pavone, L, Curatolo, P, Rizzo, R, Micali, G, Incorpora, G, Garg, BP, Dunn, D & Dobyns, WB 1991, 'Epidermal nevus syndrome: A neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy', Neurology, vol. 41, no. 2, pp. 266-271.
Pavone, L. ; Curatolo, P. ; Rizzo, R. ; Micali, G. ; Incorpora, G. ; Garg, B. P. ; Dunn, David ; Dobyns, W. B. / Epidermal nevus syndrome : A neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. In: Neurology. 1991 ; Vol. 41, No. 2. pp. 266-271.
@article{336121ac322d4e5e93f7a48c43ff5393,
title = "Epidermal nevus syndrome: A neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy",
abstract = "The epidermal nevus syndrome (ENS) is a sporadic neurocutaneous disorder that consists of epidermal nevi and congenital anomalies involving the brain and other systems. From among over 60 patients with ENS presenting with neurologic manifestations, we identified 17 who had hemimegalencephaly based on pathologic or radiologic studies. Associated brain and neurologic abnormalities included gyral malformations in 12 of 12, mental retardation in 13 of 14, seizures in 16 of 17 (including 9 with infantile spasms), and contralateral hemiparesis in 7 of 12. All had ipsilateral epidermal nevi of the head, and several had ipsilateral facial hemihypertrophy. We concluded that these abnormalities comprise a recognizable neurologic variant of ENS that we believe represents the full expression of primary brain involvement. Several patients also had evidence of acquired brain lesions such as infarcts, atrophy, porencephaly, and calcifications, which are best explained by prior ischemia or hemorrhage. Given repeated observations of blood vessel anomalies in ENS patients, we hypothesize that underlying vascular dysplasia predisposes to these acquired lesions. The same cause may be invoked to explain the wide variety of neurologic symptoms reported in ENS patients without hemimegalencephaly. While the cause of ENS remains unknown, several observations suggest a somatic mutation.",
author = "L. Pavone and P. Curatolo and R. Rizzo and G. Micali and G. Incorpora and Garg, {B. P.} and David Dunn and Dobyns, {W. B.}",
year = "1991",
language = "English",
volume = "41",
pages = "266--271",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "2",

}

TY - JOUR

T1 - Epidermal nevus syndrome

T2 - A neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy

AU - Pavone, L.

AU - Curatolo, P.

AU - Rizzo, R.

AU - Micali, G.

AU - Incorpora, G.

AU - Garg, B. P.

AU - Dunn, David

AU - Dobyns, W. B.

PY - 1991

Y1 - 1991

N2 - The epidermal nevus syndrome (ENS) is a sporadic neurocutaneous disorder that consists of epidermal nevi and congenital anomalies involving the brain and other systems. From among over 60 patients with ENS presenting with neurologic manifestations, we identified 17 who had hemimegalencephaly based on pathologic or radiologic studies. Associated brain and neurologic abnormalities included gyral malformations in 12 of 12, mental retardation in 13 of 14, seizures in 16 of 17 (including 9 with infantile spasms), and contralateral hemiparesis in 7 of 12. All had ipsilateral epidermal nevi of the head, and several had ipsilateral facial hemihypertrophy. We concluded that these abnormalities comprise a recognizable neurologic variant of ENS that we believe represents the full expression of primary brain involvement. Several patients also had evidence of acquired brain lesions such as infarcts, atrophy, porencephaly, and calcifications, which are best explained by prior ischemia or hemorrhage. Given repeated observations of blood vessel anomalies in ENS patients, we hypothesize that underlying vascular dysplasia predisposes to these acquired lesions. The same cause may be invoked to explain the wide variety of neurologic symptoms reported in ENS patients without hemimegalencephaly. While the cause of ENS remains unknown, several observations suggest a somatic mutation.

AB - The epidermal nevus syndrome (ENS) is a sporadic neurocutaneous disorder that consists of epidermal nevi and congenital anomalies involving the brain and other systems. From among over 60 patients with ENS presenting with neurologic manifestations, we identified 17 who had hemimegalencephaly based on pathologic or radiologic studies. Associated brain and neurologic abnormalities included gyral malformations in 12 of 12, mental retardation in 13 of 14, seizures in 16 of 17 (including 9 with infantile spasms), and contralateral hemiparesis in 7 of 12. All had ipsilateral epidermal nevi of the head, and several had ipsilateral facial hemihypertrophy. We concluded that these abnormalities comprise a recognizable neurologic variant of ENS that we believe represents the full expression of primary brain involvement. Several patients also had evidence of acquired brain lesions such as infarcts, atrophy, porencephaly, and calcifications, which are best explained by prior ischemia or hemorrhage. Given repeated observations of blood vessel anomalies in ENS patients, we hypothesize that underlying vascular dysplasia predisposes to these acquired lesions. The same cause may be invoked to explain the wide variety of neurologic symptoms reported in ENS patients without hemimegalencephaly. While the cause of ENS remains unknown, several observations suggest a somatic mutation.

UR - http://www.scopus.com/inward/record.url?scp=0026065777&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0026065777&partnerID=8YFLogxK

M3 - Article

C2 - 1992373

AN - SCOPUS:0026065777

VL - 41

SP - 266

EP - 271

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 2

ER -