What are the signs and symptoms of NF1?
To diagnose NF1, a doctor looks for two or more of the following: • six or more light brown spots on the skin (often called “café-au-lait” spots), measuring more than 5 millimeters in diameter in children or more than 15 millimeters across in adolescents and adults; • two or more neurofibromas, or one plexiform neurofibroma (a neurofibroma that involves many nerves); • freckling in the area of the armpit or the groin; • two or more growths on the iris of the eye (known as Lisch nodules or iris hamartomas); • a tumor on the optic nerve (called an optic nerve glioma) • abnormal development of the spine (scoliosis), the temple (sphenoid) bone of the skull, or the tibia (one of the long bones of the shin); • a parent, sibling, or child with NF1.
