Neurofibromatosis Type 1 (NF1)
Neurofibromatosis type 1 (NF1) is the most common of the three types of neurofibromatosis and is also one of the most common inherited neurological disorders, affecting about 1 in 3,000 people throughout the world. NF1 causes developmental changes in the nervous system, skin, bones, and other tissues resulting in the formation of multiple benign tumors called neurofibromas and patches of skin pigmentation called café-au-lait spots. NF1 can affect nerves throughout the body, including the brain and spinal cord.
Most people with NF1 develop symptoms before age 10, though some symptoms may not appear until puberty. Children with NF1 often have short stature, larger-than-average head size, and a higher rate of learning disabilities and attention-deficit/hyperactivity disorder (ADHD). Because there is currently no cure or treatment for NF1 that can reverse or prevent complications, medical management of the condition focuses on early detection of treatable complications. This often includes surgery to remove or reduce the size of neurofibromas and the evaluation and management of learning disabilities.