Neurofibromatosis Presenting as the Epidermal Nevus Syndrome

Abstract

A 13-year-old boy had a large epithelial nevus of the scalp, axillary freckling, an extensive cafe-au-lait patch, bony asymmetry, and neurologic abnormalities. Although this constellation of findings was suggestive of the epidermal nevus syndrome, the findings of giant pigment granules and an increased number of melanocytes in the single cafe-au-lait patch in this patient established the diagnosis of neurofibromatosis in the pretumor stage.