Multiple hamartomas associated with intracranial malformation.
We examined a newborn infant with multiple hamartomas, including an epidermal nevus syndrome and a giant pigmented congenital nevocellular nevus, associated with other structural developmental abnormalities such as nevus flammeus, vascular malformation, cutis aplasia congenita of the scalp, cartilage hamartoma, and a lipodermoid of the conjunctiva. This child had a significant brain malformation, diagnosed by sonography and computerized tomography, consisting of a significant enlargement of the left hemisphere not associated with asymmetry of the skull or facial bones. We suggest a careful investigation of the intracranial structures by computerized tomography and/or ultrasonography in case of either extensive linear nevus sebaceous sequence and/or giant pigmented nevocellular nevus.
D000328:Adult; D001921:Brain / Q000002:abnormalities*; D005260:Female; D006222:Hamartoma / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009506:Nevus / Q000151:congenital* / Q000473:pathology; D009508:Nevus, Pigmented / Q000151:congenital* / Q000473:pathology; D012878:Skin Neoplasms / Q000473:pathology*; D013577:Syndrome; D014057:Tomography, X-Ray Computed