A 13-year-old boy had a large epithelial nevus of the scalp, axillary "freckling," an extensive café-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 café-au-lait patch in this patient established the diagnosis of neurofibromatosis in the pretumor stage.
Kenneth M. Stein, Edward Shmunes, Maurice Thew. Neurofibromatosis Presenting as the Epidermal Nevus Syndrome. Arch Dermatol. 1972;105(2):229–232. doi:10.1001/archderm.1972.01620050039008