Neurofibromatosis: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Neurofibromatosis?
A neurologist, a doctor who treats the brain and nerves, often helps lead care for neurofibromatosis. A geneticist, a doctor who studies inherited conditions, may also help. A specialty clinic should see people with NF for screening and yearly follow-up visits. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is neurofibromatosis?
Neurofibromatosis (NF) is a group of genetic conditions. They cause tumors that may affect the brain, spinal cord, and nerves. Most tumors are non-cancerous (benign), although some may become cancerous.
MedlinePlus lists three types. Type 1 (NF1) causes skin changes and deformed bones. Type 2 (NF2) causes hearing loss, ringing in the ears, and poor balance. Schwannomatosis causes intense pain and is the rarest type. NF1 is the most common type.
Symptoms
Symptoms depend on the type. Common signs include:
- NF1: flat, light brown spots on the skin called café au lait spots.
- NF1: freckling in the armpits or the groin.
- NF1: soft, pea-sized bumps called neurofibromas.
- NF1: learning difficulties and attention deficit hyperactivity disorder (ADHD), which happen in over half of people with NF1.
- NF2: hearing loss, ringing in the ears (tinnitus), and balance problems. Symptoms often start in the teen years.
- Schwannomatosis: pain that can be felt anywhere in the body.
Causes and who gets it
NF is caused by changes in genes. A change in a gene is called a mutation. You can get NF from your parents, or it can happen because of a new mutation. Once you have it, you can pass it along to your children.
About half of people with NF inherit the condition from one of their parents. The other half have a new change in the gene that was not passed down. A person with NF1 has a 50% chance of passing it on to their children.
How doctors diagnose it
A doctor starts with your personal and family medical history and a physical exam. NF1 is usually diagnosed in childhood. To diagnose NF1, a person must have two or more of these:
- Six or more café au lait spots.
- Freckling in the armpit or groin.
- Two or more neurofibromas, or one plexiform neurofibroma (a tumor that involves several nerves).
- Two or more Lisch nodules, which are bumps on the iris of the eye.
- An optic pathway glioma, a tumor of the pathway that carries vision signals.
- Curving of the bones of the shin.
- A gene change linked to NF1 found on genetic testing.
- A parent with NF1.
Eye exams can show Lisch nodules, and hearing tests may be used for NF2. Imaging tests such as X-rays, CT scans, or MRIs can find bone changes and tumors. Genetic testing is also used to diagnose NF1 and NF2.
Treatment
There is no cure for NF1 or schwannomatosis, but treatments can help manage symptoms and other conditions that may develop. People with NF should get regular screenings, such as routine eye and physical exams. They should see a specialist regularly, even without symptoms.
The FDA approved selumetinib (Koselugo) for children ages two and older with NF1 who have plexiform neurofibromas that cause symptoms and cannot be addressed with surgery. In February 2025, the FDA also approved mirdametinib (Gomekli) for adults and children 2 and older with NF1 and symptomatic plexiform neurofibromas that surgery cannot completely remove. Mirdametinib can cause left ventricular dysfunction, a heart problem, and eye problems.
NINDS says there is no approved medicine to treat schwannomatosis directly. Medicines can help with pain, headache, seizures, and other symptoms.
Surgeons may remove tumors that are growing or causing symptoms. Chemotherapy, surgery, or radiation therapy may be used for tumors that become cancerous.
Hearing aids, cochlear implants, or auditory brain stem implants might improve hearing loss in some people with NF2-related schwannomatosis. Children with NF1 should be seen by a care team that knows NF1, because learning problems are more likely.
When to see a doctor
Have a doctor look at café au lait spots, freckling in the armpits or groin, or soft bumps on the skin. These spots can appear in other conditions, so a doctor must diagnose them. See a doctor about hearing loss, ringing in the ears, or balance problems, which are often early signs of NF2.
See a doctor about a new lump or a lump that changes, because some plexiform neurofibromas can turn into a cancerous tumor. Also see a doctor about any gradual change in vision, since optic pathway gliomas can affect vision.
Call 911 or go to the emergency room if you have trouble breathing, fainting, sudden weakness, a sudden change in vision, or trouble speaking.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either one can arrange routine eye and physical checkups, keep track of your care over time, and help you get to an NF specialty clinic.
Common questions
Is neurofibromatosis cancer?
No, most NF tumors are not cancer. Most tumors are non-cancerous (benign), although some may become cancerous.
Can neurofibromatosis be cured?
No, there is no cure. Treatment can help control symptoms.
Is neurofibromatosis inherited?
It can be. About half of people with NF inherit the condition from one of their parents. The other half have a new change in the gene.
Does neurofibromatosis shorten life?
Not usually for NF1, the most common type. Most people with NF1 have an average life expectancy.
Sources
- MedlinePlus - Neurofibromatosis
- National Institute of Neurological Disorders and Stroke - Neurofibromatosis
- FDA - FDA approves mirdametinib for adult and pediatric patients with neurofibromatosis type 1 who have symptomatic plexiform neurofibromas not amenable to complete resection
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
