Sebaceous nevus syndrome: report of two cases.
Sebaceous nevus (SN) syndrome is a neurocutaneous disorder characterized by a distinctive skin lesion in association with epilepsy and mental retardation. In one group of patients, brain lesions may be consequent to vascular abnormalities ("vascular variant"); another group of SN patients presents ipsilateral hemimegalencephaly, gyral anomalies, and facial hemihypertrophy ("neurologic variant" or "SN with hemimegalencephaly"). In the latter group, facial hemihypertrophy does not appear to be a constant feature and was not present in our 2 SN patients with hemimegalencephaly. Considering that about half of the SN patients with hemimegalencephaly described so far do not have facial asymmetry, we suggest the existence of a separate subgroup of SN patients with hemimegalencephaly and without facial hemihypertrophy. In these patients, the only clinical diagnostic clue is a nevus that is barely visible until puberty.
Bonioli
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Istituto di Clinica Pediatrica G. Gaslini, Università di Genova, Italy.
Bertola
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A
Di Stefano
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A
Bellini
C
C
D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities / Q000473:pathology; D002552:Cerebral Ventricles / Q000002:abnormalities / Q000473:pathology; D004292:Dominance, Cerebral / Q000502:physiology; D005148:Facial Dermatoses / Q000235:genetics*; D005260:Female; D006222:Hamartoma / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D013036:Spasms, Infantile / Q000235:genetics*; D013577:Syndrome