The hallmark of encephalocraniocutaneous lipomatosis is the presence of a large, soft, unilateral, slightly protuberant mass in the craniofacial region (Figure 304.1). The skin above the mass is devoid of hair. A fleshy pterygium-like lesion is usually present on the sclera.

Figure 304.1.— Large soft protuberant mass under the bald area in a patient with encephalocraniocutaneous lipomatosis.

Neonates with encephalocraniocutaneous lipomatosis may present with seizures and hypotonia. Hydrocephalus may develop later. Magnetic resonance imaging usually shows cerebral atrophy ipsilateral to the cutaneous lesions, porencephalic cysts, intracranial lipomas (Figure 304.2), and vascular malformations. Spinal cord involvement (lipomas) may occur in encephalocraniocutaneous lipomatosis. Encephalocraniocutaneous lipomatosis is a sporadic disorder.

Figure 304.2.— Encephalocraniocutaneous lipomatosis. [A] Soft protuberant mass. [B] Large midline lipoma.