Brain & Nervous System More Neurological Diseases Print Neurofibromatosis Type 1 Symptoms and Treatment By Mary Kugler, RN Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems. Learn about our editorial policy Mary Kugler, RN Medically reviewed by Medically reviewed by Diana Apetauerova, MD on November 13, 2019 linkedin Diana Apetauerova, MD, is board-certified in neurology with a subspecialty in movement disorders. She is an associate clinical professor of neurology at Tufts University. Learn about our Medical Review Board Diana Apetauerova, MD Updated on January 18, 2020 DR P. MARAZZI/SCIENCE PHOTO LIBRARY/Getty Images More in Brain & Nervous System More Neurological Diseases Autism Headaches Multiple Sclerosis Parkinson's Disease Stroke Alzheimer's Down Syndrome Epilepsy Migraines Head Trauma Neurological Symptoms & Diagnosis Treatment View All Neurofibromatosis is a genetic nervous system disorder that causes tumors to grow around nerves. There are three types of neurofibromatosis: type 1 (NF1), type 2 (NF2), and schwannomatosis. An estimated 100,000 Americans have a form of neurofibromatosis. Neurofibromatosis occurs in both males and females of all ethnic backgrounds. Neurofibromatosis type 1 may either be inherited in an autosomal dominant pattern or it may be due to a new gene mutation in an individual. The gene for neurofibromatosis type 1 is located on chromosome 17. Symptoms Neurofibromatosis type 1 is the most common type of neurofibromatosis. It occurs in about 1 in 4,000 births. Symptoms of NF1 include: light brown spots (cafe-au-lait spots) on the skintumors around nerves (called neurofibromas)freckles in the armpits or in the groin areasgrowths on the iris of the eye (called Lisch nodules or iris hamartomas)tumors on the optic nerve of the eye (optic glioma)abnormal curving of the spine (scoliosis)malformation of other bones Many children with NF1 have larger than normal head circumference and are shorter than average. Nearly 50% have speech problems, learning disabilities, seizures, or hyperactivity. Individuals with NF1 may also have headaches, heart defects, high blood pressure, or blood vessel disease (vasculopathy). Diagnosis The symptoms of NF1 are often present at birth or shortly after, and almost always are present by age 10 years. For children to be diagnosed with NF1, they must show at least two of the above symptoms. In addition to a physical examination, doctors may use special lamps to examine the skin for cafe-au-lait spots. In NF1, six or more of these spots are present, and they measure more than 5 mm in diameter in children or more than 15 mm in diameter in adolescents and adults. Magnetic resonance imaging (MRI), X-rays, computed tomography (CT) scans, and other tests may be done to look for neurofibromas and abnormal bones. Genetic testing by blood test can be done to detect defects in the NF1 gene. Treatment Doctors do not know how to stop the tumors from growing in neurofibromatosis. Surgery can be used to remove tumors that are causing pain or problems with vision or hearing. Chemical or radiation treatments may be used to reduce the size of tumors. In NF1, some bone malformations, such as scoliosis, can be treated with surgery or braces. Other symptoms such as pain, headaches, or seizures can be managed with medications or other treatments. Was this page helpful? Thanks for your feedback! Sign up for our Health Tip of the Day newsletter, and receive daily tips that will help you live your healthiest life. Sign Up You're in! Thank you, {{form.email}}, for signing up. There was an error. Please try again. What are your concerns? Other Inaccurate Hard to Understand Submit Article Sources Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial policy to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy. Neurofibromatosis Fact Sheet. National Institute of Neurological Disorders and Stroke. Gerber, P., Antal, A., Neumann, N. Neurofibromatosis. Eur J Med Res 14, 102 (2009) doi:10.1186/2047-783X-14-3-102 Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. The Lancet Neurology. 2014;13(8):834-843. doi:10.1016/s1474-4422(14)70063-8 Additional Reading "Learning About Neurofibromatosis." Specific Genetic Disorders. 27 Nov 2007. National Human Genome Research Institute. "Neurofibromatosis Fact Sheet." Disorders. 13 Dec 2007. National Institute of Neurological Disorders and Stroke.