Hemimegalencephalic variant of epidermal nevus syndrome: case report and literature review.
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.
Child Neuropsychiatry Unit, University of Parma, Via Gramsci 14, 43126 Parma, Italy.
Elena
E
Pavlidis
Gaetano
G
Cantalupo
Sonia
S
Boria
Giuseppe
G
Cossu
Francesco
F
Pisani
D000293:Adolescent; D002658:Developmental Disabilities / Q000209:etiology; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications; D005145:Face / Q000002:abnormalities; D006257:Head / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D054220:Malformations of Cortical Development / Q000209:etiology* / Q000473:pathology; D009422:Nervous System Diseases / Q000209:etiology; D018330:Nevus, Intradermal / Q000150:complications*; D054000:Nevus, Sebaceous of Jadassohn / Q000150:complications*; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications*