Snap Shot A 1-year-old boy presents with multiple oval shaped, coffee-colored macules on his lower right abdomen. His mother also has a 7.5 cm cafe-au-lait patch on her right hip and smaller spots on her back that she refers to as freckles. Introduction An autosomal dominant inheritance pattern with variable penetrance. Deletion on long arm of chromosome 17 Patients have increased incidence of neural tumors: meningiomas, optic nerve gliomas, acoustic neuromas of the eighth nerve, pheochromocytomas, and neurosarcomas Presentation Characterized by more than six cafe-au-lait macules or one greater than 5cm Multiple neurofibromas dispersed on or in the body Pigmented iris hamartomas called Lisch nodules May have massive distortion of the skin