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December 1982

Picture of the Month

Am J Dis Child. 1982;136(12):1085-1086. doi:10.1001/archpedi.1982.03970480051011

Denouement and Discussion 

Encephalocraniocutaneous Lipomatosis 

Manifestations  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.

Genetics  The mode of inheritance is not known.

Treatment  Ophthalmologic, dermatologic, and neurologic examinations, including computed tomographic scans, should be performed. Neurosurgery may be indicated because of