At Stanford Health Care, you also receive ongoing support to meet your specific needs and help you manage this lifelong condition.
What is neurofibromatosis?
Neurofibromatosis is a genetic disorder that can vary widely in severity and symptoms. People with NF can develop tumors in their brain, spinal cord, nerves, and skin. In rare cases, tumors can become cancerous.
What causes neurofibromatosis?
Neurofibromatosis is rare and caused by genetic mutations. In about half the cases, people inherit NF from a parent with the disease. A parent with neurofibromatosis has a 50% chance of having a child with the disease. In the other half of cases, NF occurs by chance as the result of a spontaneous genetic mutation. Males and females are equally affected.
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Understanding Neurofibromatosis
Symptoms of Neurofibromatosis
There are two types of NF, classified as NF1 and NF2, with distinct symptoms for each:
Neurofibromatosis 1 (NF1)
The classic sign of NF1 is light brown patches of pigment on the skin, called café-au-lait spots. These are often present at birth or appear in infancy. Other symptoms include:
- Tumors called neurofibromas that grow on the nerves under the skin or anywhere in the body
- Skeletal problems, such as scoliosis or weak bones
- Lisch nodules, small tumors on the iris (colored part of the eye) that do not usually affect vision
- Gliomas (tumors in the nerves in the brain and spinal cord), especially in the optic nerve of the eye
- Neurological problems, such as headaches and seizures
- Intellectual disability, learning difficulties, or hyperactivity
Neurofibromatosis 2 (NF2)
Symptoms of NF2 can appear in childhood, adolescence, and early adulthood. The most common symptom is the development of multiple tumors called schwannomas. These tumors usually occur on the eighth cranial nerve (vestibular nerve) in your brain, which helps control hearing and balance. Hence, the tumors are called vestibular schwannomas. Tumors in this area can cause a range of symptoms, such as:
- Balance problems
- Difficulty walking
- Dizziness
- Facial weakness
- Headaches
- Hearing loss
- Ringing in the ears (tinnitus)
Schwannomas can also affect other nerves in your brain, spine, and body.
Other signs of NF2 include:
- Meningiomas, tumors in the covering of your brain or spinal cord
- Gliomas, tumors in the nerves in your brain and spinal cord
- Cataracts at a young age
Neurofibromatosis Types
Neurofibromatosis 1
This is the more common of the two disorders, making up over 95% of all NF cases. It is also called von Recklinghausen's disease.
The main symptom of NF1 is light brown patches of pigment on the skin, called café-au-lait spots. Skeletal deformities, headaches, seizures, learning disabilities, and hyperactivity are also common among people with NF1.
Several types of tumors are associated with NF1, including:
- Neurofibromas, benign (noncancerous) tumors that grow on the nerves, under the skin, and in various organs of the person's body
- Plexiform neurofibromas, a type of neurofibroma that can occur anywhere in the body and can become malignant (cancerous)
- Gliomas, a type of cancerous tumor that can be slow- or fast-growing. In people with NF, they occur most often in the optic nerve of the eye and the brainstem.
Neurofibromatosis 2
NF2 accounts for fewer than 5% of neurofibromatosis cases. It is also known as bilateral acoustic neurofibromatosis. At least 90% of people with NF2 develop vestibular schwannomas on the eighth cranial nerve in the brain. Because this nerve controls balance and hearing, this type of tumor can lead to symptoms such as hearing loss, ringing in the ears, and difficulty walking. Hearing loss can occur as early as the teenage years.
Schwannomas can also affect other nerves throughout your body, causing a range of symptoms. In addition, people with NF2 may develop other brain and spinal cord tumors, including meningiomas and gliomas.
Neurofibromatosis Risk Factors
You are at higher risk of NF if you have a parent or family member who has the disorder.
If you have a family member with a neurogenetic condition, talk to your doctor to find out if genetic testing is right for you. Genetic testing can tell you if you have inherited a neurogenetic disorder, even if you do not have symptoms. Our genetic counselors also help you understand the risk of passing the condition on to a child if you are planning a pregnancy.
Effective treatment starts with an accurate diagnosis. Our specialists complete a comprehensive assessment to diagnose NF. This includes reviewing your symptoms and medical history and performing a physical exam to look for skin spots or growths, masses under the skin, and scoliosis. You may also receive tests to check your vision, hearing, and balance.
Other tests your doctor may recommend include:
Advanced Imaging
Imaging tests, such as MRI, CT scan, and ultrasound tests, look for tumors in your brain, spinal cord, or other areas of your body.
Genetic Testing
The most accurate way to diagnose neurofibromatosis is genetic testing to find out if you have a mutation in one of the genes that cause NF1 or NF2. Your doctor may also recommend genetic counseling and testing for your family members. Our genetic counselors can help determine who in your family carries the NF1 or NF2 mutation and check for patterns of family inheritance.
Neurofibromatosis
Our doctors specialize in diagnosing and treating neurofibromatosis. They provide comprehensive multispecialty care to help you manage this rare disorder.
Neurofibromatosis
Neurofibromatosis 1
neurofibromatosis 2
NF1
NF2