Neurofibromatosis

NF2–SWN is less common than NF1. Only about 1 in 25,000 babies are born with it.

Schwannomatosis (SWN)

This is the least common type of NF. It affects about 1 in 70,000 people.

SWN causes tumors (schwannomas) to grow on your brain, spine, or nerves. These tumors aren't cancerous, but they can damage your hearing, vision, organs, blood vessels, or other parts of your body. You could have one or two, or you could have many tumors.

Chronic pain is the most common symptom. 

SWN is often diagnosed in adults, but people of all ages can have it.

Neurofibromatosis Causes

Neurofibromatosis often is inherited (passed down by family members through your genes). But about 50% of people diagnosed with the disorder have no family history. That's because it can result from a sudden mutation (change) in your genes. Once this change takes place, you can pass it on to future generations. 

NF1 gene

The NF1 gene makes a protein called neurofibromin that controls your cells' growth. A mutation of this gene that causes loss of its function leads to the development of cells around the nerve sheath to grow out of control.

NF2 gene

The NF2 gene makes a protein called merlin, which prevents tumors from growing. Changes to this gene cause a loss of merlin and uncontrolled cell growth.

Schwannomatosis gene

Changes on two known genes, SMARCB1 and LZTR1, are linked to schwannomatosis. Both also suppress tumors.

Neurofibromatosis Symptoms

Your symptoms will depend on the type of NF that you have.

NF1 symptoms

Common signs include:

• Cafe-au-lait spots
• Freckling in your armpits or groin, which often appears between ages 3 and 5
• Lisch nodules (tiny bumps on the colored part of your eye)
• Neurofibromas
• Bone problems, like a curved spine (scoliosis) or bowed legs
• Larger-than-average head size
• Short height
• Learning and behavior differences, including attention deficit hyperactivity disorder (ADHD)

NF2-SWN symptoms

Aside from trouble hearing, ringing in the ears, and balance issues, you could have symptoms from tumors that form in other places of your body. For instance, you may notice:

• Weakness in your muscles
• Headaches
• Facial paralysis (not being able to move part of your face)
• Skin changes, like growths or changes in skin color
• Burning pain in your hands or feet
• Cloudy vision (cataracts)
• Seizures

 Schwannomatosis symptoms

With this kind of NF, it's common to have:

• Intense pain that won't go away (This may be anywhere in your body.)
• Numbness
• Loss of strength
• Muscle wasting (atrophy)

Neurofibromatosis Diagnosis

If your doctor thinks you or your child has NF, they'll ask many questions about health, symptoms, and family history. They'll do a physical exam and look closely at the skin, eyes, and vision. They'll also check hearing.

In some cases, your doctor may order more tests. These could include:

• Imaging tests, like X-rays, computerized tomography (CT) scans, or magnetic resonance imaging (MRI) to look for tumors or bone changes
• Genetic testing, to confirm a diagnosis or help make a diagnosis if your symptoms are unclear 

NF1 diagnosis

To receive a diagnosis of NF1, you must have at least two of the following features:

• Six or more cafe-au-lait spots
• Two or more neurofibromas or one or more plexiform neurofibromas (a nerve that has become thick and misshapen due to the abnormal growth of cells that cover it)
• Freckling in your armpit or groin
• Optic glioma (tumor in your eye nerve)
• Two or more Lisch nodules
• A curved shinbone
• A parent with NF1
• A gene variant associated with NF1 on genetic testing

NF2-related schwannomatosis diagnosis

Questions to Ask Your Doctor

Before a doctor visit, it can help to write down a list of questions so you can better understand your care plan. For instance, you might ask:

• Do I need surgery to remove my tumors?
• What are the risks of surgery?
• What medications do you suggest, and how can they help me?
• What are the side effects I could have from these treatments?
• What complications could I have from NF? What can I do to prevent them?
• How can I learn more about NF?
• Where can I get more support? 

Finding Expert Care

NF is a rare condition. To get the best care, it's important that you or your child sees a doctor who's familiar with it. 

The NF Clinic Network (NFCN) can help you find clinics in the U.S. and Canada that have a lot of experience with, or specialize in, caring for people with all types of NF.

The NF Collective also can help you find a doctor near you.

If you can't find a doctor near your home, you can print out fact sheets about NF from a trusted organization like the Children's Tumor Foundation and share them with your primary care doctor.

Neurofibromatosis Treatment

There's no cure for neurofibromatosis yet, and there's no one-size-fits-all treatment. Many symptoms, like dark spots, may not need treatment at all.

If you do have symptoms that need to be managed, your doctor may prescribe medication. For instance, some targeted drugs can stop certain types of tumors from growing, reduce chronic pain, prevent seizures, or manage your headaches. 

MEK inhibitors are a type of targeted drug. They're usually used to treat skin cancer but have been shown to help shrink some NF tumors. 

MEK is part of a "pathway" that signals tumors to grow. When you have NF, this pathway is more active than it needs to be. MEK inhibitors act as a roadblock.

This type of medication doesn't work right away. You'll need to take it for a few months before you see a difference.

Two MEK inhibitors are FDA-approved for NF:

Selumetinib (Koselugo) can help if you have NF1 and soft tumors that can't be removed with surgery. You usually take it by mouth twice a day. It can be given to children ages 2 and older.

Mirdametinib (Gomekli) can also help treat some types of NF1. You take it by mouth for 21 days, are off it for a week, then start taking it again. Your doctor will prescribe a certain number of cycles like this. 

Other MEK inhibitors are also being studied. These include:

• Binimetinib, which is being tested on children older than 1 year as well as adults who have some types of NF1 
• Trametinib, which could help with some severe cases of NF1

Another drug – cabozantinib, a tyrosine kinase inhibitor – is also being tested. So far, clinical trials show that it may reduce tumors and decrease pain in people with NF1.

Other treatment options include: 

• Surgery to remove growths or tumors
• Chemotherapy or radiation therapy, if a tumor has turned cancerous
• Surgery for bone problems, like scoliosis
• Therapy (including physical therapy, counseling, or support groups)
• Cataract removal surgery
• Hearing aids or cochlear implants
• Corrective glasses

Clinical trials

You might benefit from joining a clinical trial. These are studies that help researchers find and test new treatments for neurofibromatosis. 

The National Institutes of Health has information about joining a clinical trial. They also maintain a searchable database of clinical trials. 

Neurofibromatosis Complications

The complications you may have over time depend on the type of NF you live with.

NF1 complications

NF1 can cause issues with your:

Hearing and vision. Tumors can affect how well you can hear or see.

Nervous system. For instance, you might have trouble learning well and thinking clearly. Although it's less common, you could also have seizures.

Bones. You could have bones that are easily broken or need surgery to correct a curved spine. 

Heart. You're more likely to have high blood pressure, which can damage your blood vessels.

Mental health. Sometimes, tumors and spots caused by NF can make you self-conscious, anxious, or depressed.

People with NF1 are also more likely to have some types of cancer. 

NF2-related schwannomatosis complications

If you live with this type of NF, you could have:

• Hearing and vision loss
• Muscle weakness
• Damage to your facial nerves
• Skin tumors
• Brain or spinal tumors that need surgery to remove

Schwannomatosis complications

The most common complication of schwannomatosis is severe, ongoing pain. In some cases, it could make it hard for you to get through your day.

Taking Care of Yourself

You may feel overwhelmed when you or your child gets an NF diagnosis. It can help to:

Learn more about NF. It could help give you a sense of control and let you know how to better manage specific symptoms. 

See your doctors regularly. Specialists you might need to see include: 

• Geneticists
• Neurologists
• Oncologists
• Radiologists
• Neurosurgeons
• Head and neck surgeons
• Ophthalmologist (eye doctor)

At some medical centers, a nurse coordinator or family nurse practitioner can help you manage your appointments with different doctors. 

Find different ways to deal with your symptoms. Talk to your doctor about ways to do this. For instance: 

• Physical therapy and occupational therapy can help you manage issues with balance. 
• If you have hearing loss, you could learn sign language or try hearing aids or implants. 
• A speech therapist can help you improve your speech and ability to swallow.
• Acupuncture may help you deal with ongoing pain.
• Counseling, massage therapy, and yoga can help reduce your stress.

What to Expect

NF is a lifelong condition. Even when you're feeling well, you'll need to see your doctor. It's important for them to regularly check your skin, bones, and eyes. They may also need to look for changes in your brain or on your spinal cord and nerves.

How Your Condition Might Change Over Time

If you have NF1, there's no way to predict how your symptoms may change over time. Even if you have a parent with NF1, you could still have a different experience than them.

If NF2-SWN was passed down to you, your symptoms could be a lot like those of the parent who also had it. Sometimes, doctors can also look at the genetic change that caused NF2-SWN and generally predict your outlook.

Schwannomatosis is more complex. There's no way yet for doctors to predict the path that condition could take in the future.

Getting Support

NF organizations can offer a variety of free services, including:

• Information on your treatment options
• Research updates
• Financial aid, like help with travel expenses to get medical care
• Support groups and other ways to connect to people living with NF

Some groups you could connect with include:

• Children's Tumor Foundation
• NF Collective
• Neurofibromatosis Network
• Neurofibromatosis Northeast
• Neurofibromatosis Midwest

The NF Registry is a database of people with living NF around the world. Signing up allows you to get involved with NF research and get matched with clinical trials.

Caring for Your Emotional Health

Depression, anxiety, stress, and low self-esteem are common when you live with NF. Don't forget to take care of your mental health along with tending to your physical symptoms. 

Working with a mental health expert, like a counselor, can help. Research shows that your quality of life could be improved by:

• Mindfulness strategies, like deep breathing and meditation
• Coping strategies, like being more aware of your stress and setting goals to help yourself
• Optimism, or expecting a positive outcome, through the use of things like humor and visual imagery

You may also find it helpful to join a support group and meet others who live with NF. 

Information for Caregivers

If you care for a child with neurofibromatosis:

Talk to them about their condition. Choose words that are right for their age and maturity. To get started:

• Ask your child's doctor for guidance.
• Try not to focus on your own worries.
• Plan what you'll say. You may want to rehearse in front of someone you trust.
• Keep an open mind. Your child's reaction may not be what you expect.
• It's OK to not have all the answers. This isn't a "one and done" conversation, but something you and your child can keep talking about.

Support your child at school. About 50% to 60% of children with NF1 have learning differences. Your child may need special support in school, which you can ask for in an individualized education program (IEP).

Cognitive (thinking) skills usually don't worsen over time. But as your child gets older, you may be faced with different challenges. When you need more support, ask your doctor to help connect you with resources, like an adult literacy network.

Accept help. You don't need to "power through" by yourself. Allow others to help out with small errands, house chores, or child care.

Takeaways

Neurofibromatosis is a group of genetic conditions that affect your skin, nerves, brain, and spinal cord. There's no cure yet, but doctors keep looking for new and better ways to treat NF symptoms. Medications, surgery, physical therapy, and occupational therapy can all help you manage the condition. Reaching out to NF organizations or joining a support group can be helpful, too.

Neurofibromatosis FAQs

What's the life expectancy of people with neurofibromatosis?

If you only have a few complications, your life expectancy with NF is about the same as someone who doesn't have this condition.

Can one type of neurofibromatosis change into another?

No, the types of NF are all separate and don't change into each other.

How does neurofibromatosis affect a person's life?

It's really difficult to predict how NF will affect your life. Some people have very few symptoms, while others face more challenges. It's important to have a care team you trust and that has experience treating NF. 

Can I prevent neurofibromatosis?

There isn't yet a way to prevent NF. If you want to start a family, talk to a genetic counselor about whether or not you could pass it on to your child.

Should neurofibromas be removed?

If a tumor causes pain or weakness, your doctor may advise surgery to remove it. Surgery also may be the best course if a tumor is growing fast or if your doctor suspects it might develop into cancer.