Neurofibromatosis Type 1: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Neurofibromatosis Type 1?
A neurologist, a doctor who treats the brain and nerves, or a geneticist, a doctor who studies inherited conditions, often helps lead care for neurofibromatosis type 1. Children with NF1 should be seen by a care team that knows NF1. 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 type 1?
Neurofibromatosis type 1 (NF1) causes changes in skin color and the growth of tumors along nerves in the skin, brain, and other parts of the body. Signs vary widely from person to person. NF1 is also called von Recklinghausen disease.
NF1 is rare, but it is the most common type of neurofibromatosis. It occurs in 1 in 3,000 to 4,000 people worldwide.
Symptoms
Common signs of NF1 include:
- Café-au-lait spots, which are flat patches on the skin darker than the skin around them. Almost all people with NF1 have several, beginning in early childhood. They grow in size and number as a person gets older.
- Freckles in the underarms and groin, which typically develop later in childhood.
- Neurofibromas, which are noncancerous tumors usually on or just under the skin. Most adults with NF1 develop them.
- Lisch nodules, which are growths on the colored part of the eye. They do not interfere with vision.
- Optic gliomas, tumors on the nerve from the eye to the brain. They may lead to reduced vision or total vision loss, but sometimes have no effect on vision.
- High blood pressure, short stature, an unusually large head, and a curved spine called scoliosis.
- Learning disabilities and ADHD (attention-deficit/hyperactivity disorder). Most people with NF1 have normal intelligence.
Some people develop cancerous tumors that grow along nerves, usually in the teen years or adulthood. People with NF1 also have a higher risk of other cancers, including brain tumors and leukemia, a cancer of blood-forming tissue.
Causes and who gets it
Changes in the NF1 gene cause NF1. This gene makes a protein called neurofibromin. The protein keeps cells from growing and dividing too fast. When the gene is changed, the protein does not work, and tumors can form along nerves.
NF1 follows an autosomal dominant pattern, which means one changed copy of the gene is passed on. In about half of cases, the changed gene is inherited from a parent with NF1. The rest result from new changes in people with no family history. A person with NF1 has a 50% chance of passing it on to their children.
How doctors diagnose it
Doctors start 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.
- Two or more Lisch nodules.
- An optic pathway glioma.
- Curving of the bones of the shin.
- A gene change linked to NF1 found on genetic testing.
- A parent with NF1.
An eye exam can show Lisch nodules. An MRI, a scan that takes pictures inside the body, might be used to diagnose optic gliomas.
Treatment
There is no cure for NF1, but treatments are available to help manage symptoms and other conditions that may develop. People with NF1 should get regular screenings, such as routine eye and physical exams. They should see a specialist regularly, even without symptoms. A specialty clinic should provide an initial screening and yearly follow-up visits.
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 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.
Surgeons may remove tumors that are growing or causing symptoms. Chemotherapy may be used to treat optic pathway gliomas. Chemotherapy, surgery, or radiation therapy may be used for tumors that become cancerous.
When to see a doctor
Have a doctor look at flat brown spots, freckling in the armpits or groin, or soft bumps on the skin. Café au lait spots appear in other conditions, so a doctor must diagnose them.
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 the routine eye and physical checkups, keep track of your care over time, and help you get to an NF specialty clinic.
Common questions
Is NF1 cancer?
No, NF1 is a genetic condition, not a cancer. Most adults with NF1 develop neurofibromas, which are noncancerous tumors. Some people develop cancerous tumors along nerves.
Can NF1 be passed to children?
Yes. In about half of cases, the changed gene is inherited from an affected parent. A person with NF1 has a 50% chance of passing it on to their children.
Does NF1 shorten life?
Not usually. Most people with NF1 have an average life expectancy.
Sources
- MedlinePlus Genetics - Neurofibromatosis type 1
- 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.
