Denouement and Discussion
Encephalocraniocutaneous lipomatosis (ECCL) is a congenital neurocutaneous syndrome that consists of skin lesions, ophthalmologic malformations, and cerebral abnormalities. The skin lesions appear as extensive (4 to 8 cm), raised, hairless, soft tumors, which are usually unilateral and involve the frontoparietal area of the scalp, with smaller lesions (3 to 5 mm) located around the eyes and cheek. Histologically, they are hamartomas of fat and connective tissue. Fleshy tumors (choristomas) are present on the sclerae. The CNS abnormalities consist of ipsilateral cerebral atrophy, dilated ventricles, porencephaly, varying degrees of mental retardation, and seizures that usually begin in infancy. Clinically, this syndrome can be confused with the linear nevus sebaceous syndrome, but the histologic findings of ECCL are different.
The mode of inheritance is not known.
Ophthalmologic, dermatologic, and neurologic examinations, including computed tomographic scans, should be performed. Neurosurgery may be indicated because of