Neurofibromatosis is a genetic problem that causes tumors in the nervous system. Tumors develop in the nerves or the tissue that surrounds the nerves, called the myelin sheath. Neurofibromatosis is divided into 3 types, neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. The type is determined by the specific genes that are affected.
This articles discusses NF1, the most common neurofibromatosis. It affects the nerves outside the brain and spinal cord, called peripheral nerves.
NF is caused by a change in a specific gene. The gene normally makes proteins that help control growth in the nerves. Since the gene is defective, these proteins are not able to control growth, and tumors develop.
In many cases, the abnormal gene is inherited from a parent. A person with the inherited form of NF has a 50% chance of passing the abnormal gene to each child. Any parents, children, and siblings of an affected individual should be considered at risk for NF. However, the gene change can occur in a person with no family history of NF.
There are no current treatments to stop these tumors from growing. Treatment may not be needed since these tumors are rarely cancerous, grow slowly, and may not cause problems. Regular exams are recommended to check for new tumors or symptoms.
Treatment may be needed to control symptoms. Surgery may be done to remove painful or disfiguring tumors. Medications and therapies may also be needed to manage other symptoms such as seizures and learning disabilities.
Rarely, some tumors can become cancerous. These tumors may need to be treated with surgery,
Neurofibromatosis (N1, N2). Your Genes Your Health website. Available at: ...(Click grey area to select URL) Accessed March 20, 2018.
NINDS neurofibromatosis information page. National Institute of Neurological Disorders and Stroke website. Available at:
https://www.ninds.nih.gov/Disorders/All-Disorders/Neurofibromatosis-Information-Page. Accessed March 20, 2018.
Last reviewed March 2018 by
EBSCO Medical Review Board
Kari Kassir, MD Last Updated: 5/11/2013