Scalp lipomas and cerebral malformations--report of a case and review of the literature.
A child is reported with a scalp lipoma and underlying bony skull defect and porencephaly. The clinical picture is compatible with a diagnosis of encephalocraniocutaneous lipomatosis, although there is no alopecia overlying the lipoma and no scleral lesions. In addition, this child has unilateral ptosis and syndactyly. This report extends our appreciation of the phenotype of this neurocutaneous disorder.
Mersey Regional Genetic Counselling Services, Royal Liverpool Hospital.
A E
AE
Fryer
D000015:Abnormalities, Multiple / Q000235:genetics; D018206:Angiolipoma / Q000151:congenital / Q000235:genetics; D001763:Blepharoptosis / Q000151:congenital / Q000235:genetics; D001921:Brain / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008068:Lipomatosis; D008297:Male; D012535:Scalp; D012878:Skin Neoplasms / Q000151:congenital* / Q000235:genetics