Neurologic variant of epidermal nevus syndrome with a facial lipoma

A 1-year-old girl presented for evaluation of a linear plaque on her forehe ad. She was born at 36 weeks' gestation following an uncomplicated pregnanc y and delivery. At birth, she was noted to have an enlarged right cheek. Sh e had no seizure history, but developed grand mal seizures 1 year later. On examination, she had a yellow plaque on her forehead which extended onto her nose. Under her right jaw. extending onto her anterior neck, there was a cafe-au-lait macule within which there was a yellow plaque which followe d the lines of Blaschko. Her right cheek was enlarged and was erythematous (Fig. 1). Magnetic resonance imaging (MRI) of her face showed a mass in the right che ek deep to the subcutaneous fat tissue layer. The signal from the mass was identical to that from the fat. indicating that the mass represented a lipo ma. This was later excised surgically and was histologically a lipoma. MRI of the brain demonstrated enlargement of the right lateral ventricle in add ition to enlargement of the right cerebral hemisphere. There was also evide nce of abnormal gyral architecture. Computerized tomography (CT) three-dime nsional reconstruction of the skull demonstrated overgrowth of the right ma xilla, right mandible, and right orbit (Fig. 2).