Neurofibromatosis

Neurofibromatosis Symptoms

Your symptoms will vary according to what type of neurofibromatosis you have. 

Neurofibromatosis 1 (NF1) symptoms

These symptoms appear in people with NF1:

• Several (usually six or more) darker spots, sometimes called cafe-au-lait spots, on skin
• Multiple freckles in the armpit or groin area
• Tiny growths in the iris (colored area) of the eye; these are called Lisch nodules and usually do not affect eyesight.
• Neurofibromas that occur on or under the skin, sometimes even deep within the body. These are benign (harmless) tumors. But in rare cases, they can turn malignant, or cancerous.
• Bone deformities, including a twisted spine (scoliosis) or bowed legs
• Tumors along the optic nerve, which may cause eyesight problems
• Nerve-related pain
• High blood pressure
• Osteoporosis
• Learning disabilities
• Large head size
• Short stature
• Behavioral issues such as attention deficit hyperactivity disorder

Neurofibromatosis 2 (NF2) symptoms

People with NF2 often have these symptoms:

• A type of tumor called acoustic neuroma
• Loss of hearing
• Weakness of the muscles of the face
• Dizziness
• Poor balance
• Ringing in ears
• Uncoordinated walking
• Cataracts (cloudy areas on the lens of the eye) that develop at an unusually early age
• Headaches

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 of the condition. That’s because it can result from a sudden mutation (change) in your genes. Once this change takes place, you can pass the mutant gene on to future generations. 

NF1 gene

The NF1 gene on chromosome 17 makes a protein called neurofibromin that controls your cells’ growth. The mutation of this gene causes a neurofibromin loss and uncontrolled cell growth.

NF2 gene

The NF2 gene on chromosome 22 makes a protein called merlin or schwannomin. It suppresses tumors. Changes to this gene cause a loss of merlin and uncontrolled cell growth.

Schwannomatosis gene

Mutations of two known genes are linked to schwannomatosis, SMARCB1 and LZTR1. Both suppress tumors.

Neurofibromatosis Diagnosis

Neurofibromatosis is diagnosed using a number of tests, including:

• Physical examination
• Medical history
• Family history
• X-rays
• Computerized tomography (CT) scans
• Magnetic resonance imaging (MRI)
• Biopsy of neurofibromas
• Eye tests
• Tests for particular symptoms, such as hearing or balance tests
• Genetic testing

NF1 diagnosis

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

• Six or more dark spots that are 1.5 centimeters or larger in people who have had puberty, or 0.5 centimeters or larger in people who haven’t
• Two or more neurofibromas of any type, or one or more plexiform neurofibromas (a nerve that has become thick and misshapen due to the abnormal growth of cells and tissues that cover the nerve)
• Freckling in the armpit or groin
• Optic glioma (tumor of the optic pathway)
• Two or more Lisch nodules
• A distinctive bony lesion, dysplasia of the sphenoid bone, or dysplasia or thinning of long bone cortex
• A first-degree relative with NF1

NF2 diagnosis

To be diagnosed with NF2, you must have:

• Bilateral (on both sides) vestibular schwannomas, also known as acoustic neuromas. These are benign tumors that develop from the balance and hearing nerves supplying the inner ear.

or

• Family history of NF2 (first-degree relative) plus unilateral (on one side) or bilateral vestibular schwannomas, or any two of the following health conditions:
  • Multiple meningiomas (tumors that occur in the meninges, the membranes that cover and protect the brain and spinal cord)
  • Glioma (cancer of the brain that begins in glial cells, those that surround and support nerve cells)
  • Any neurofibromas
  • Schwannoma
  • Juvenile cataracts
  • Gradual hearing loss
  • Ringing in the ears
  • Balance problems
  • Headaches

Schwannomatosis diagnosis

Schwannomatosis diagnosis is based on these criteria:

• If you’re 30 or older, you have no evidence of vestibular tumors on an MRI scan, no known NF2 gene mutation, and two or more schwannomas within or between skin layers, including one  confirmed by a biopsy.
• You have one schwannoma confirmed by biopsy and a first-degree relative who also meets the criteria.
• If you have a type called segmental schwannomatosis, you have tumors limited to one area of the body, such as your arm, leg, or spine.

Neurofibromatosis Treatment

There’s no cure for neurofibromatosis. Treatments focus on controlling symptoms. There’s no standard treatment for NF, and many symptoms, such as dark spots, do not need treatment. When treatment is necessary, options may include:

• Surgery to remove problem growths or tumors
• Chemotherapy or radiation if a tumor has turned malignant, or cancerous
• Surgery for bone problems, like scoliosis
• Therapy (including physical therapy, counseling, or support groups)
• Cataract removal surgery
• Aggressive treatment of pain linked to the condition
• Stereotactic radiosurgery
• Auditory brainstem and cochlear implants

Genetic studies

You can have genetic tests done to confirm your diagnosis, though they aren't necessary in many cases. You might want genetic tests to provide information for other family members who could be affected, or you might want testing before deciding to have a baby. 

Genetic tests for schwannomatosis aren't considered helpful. 

Clinical trials

You might benefit from joining a clinical trial researching neurofibromatosis. When you enroll in a clinical trial, you're helping researchers test new approaches to a condition. 

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

Living With Neurofibromatosis

Educating yourself about your condition will help you work with doctors to manage your health. That knowledge can give you a sense of control and help you focus on your specific symptoms. Specialists you might need to see include: 

• Geneticists
• Neurologists
• Neuro-oncologists
• Radiologists
• Neurosurgeons

You may want to join a support group so that you can connect with others who share similar experiences. The Children's Tumor Foundation is one resource for finding support.

Researchers are starting to focus on broader issues that affect people with neurofibromatosis. Depression and anxiety are common with this condition. Seeking mental health care in addition to tending to your physical symptoms can improve your quality of life. 

You can take specific steps to address some of your symptoms.

Balance. Physical therapy, balance training, and occupational therapy can help you deal with everyday tasks despite balance issues. 

Hearing. If you have hearing loss, you may want to learn sign language or try hearing aids or implants. 

Tinnitus. There are behavioral therapy approaches to dealing with this issue. 

Pain. Meditation, acupuncture, and behavioral therapy can help you deal with pain.

Caring for a Child With Neurofibromatosis

If your child has neurofibromatosis, it's important to talk to them about their condition in an age-appropriate way. Experts offer these tips: 

• Educate yourself about the condition. 
• Try not to let your own worries and concerns dominate. 
• Get guidance from your child's doctor. 
• Plan the conversation -- who will be there, what you'll say. You may want to rehearse.
• Your child's reaction may not be what you expect.
• The conversation should be ongoing. 
• Be honest
• Answer questions that you can, and look for resources for those you can't answer
• Provide your child with sources of information. If they search online, they may find information that's not accurate or appropriate to their situation. 
• Tend to your own mental health.

Neurofibromatosis Complications

Neurofibromatosis complications may vary from person to person. They typically stem from a growing tumor pressing against your nerve tissue or an internal organ.

NF1 complications

Possible NF1 complications include:

• Neurological problems like trouble learning or thinking
• Anxiety or distress with changes to your appearance
• Skeletal problems, like bowing of the legs, scoliosis, fractures that don’t heal, or low bone density 
• Vision problems due to a tumor pressing against the optic nerve
• Problems during times of hormonal changes, such as puberty or pregnancy
• Cardiovascular problems like high blood pressure
• Breathing problems
• Higher risk of some cancers, such as breast cancer, leukemia, colorectal cancer, brain tumors, and some soft tissue cancers
• Benign adrenal gland tumor that could cause high blood pressure

Neurofibromatosis Outlook

Your outlook depends on the type of NF you have. Often, the symptoms of NF1 are mild, and people who have it are able to lead full and productive lives. Sometimes, pain and deformity can lead to significant disability. The NF2 outlook depends on your age at the start of the disease and on the number and location of tumors. Some can be life-threatening.

Takeaways

Neurofibromatosis is a disorder of the nervous system. It might affect your skin, brain, spinal cord, and nerves. It can be caused by an inherited gene. There's no cure. You may need medicine and surgery to help manage your condition. 

Neurofibromatosis FAQs

What's the life expectancy of people with neurofibromatosis?

If you have relatively few complications, your life expectancy is about the same as someone without neurofibromatosis.

Can neurofibromatosis be cured?

No, there's no cure for neurofibromatosis.

How does neurofibromatosis affect a person's life?

Some people have very few symptoms. You might have trouble with certain aspects of daily life, depending on where tumors form in your body. It's important to have a care team to address all the aspects of your condition, including mental health impacts. 

At what age does neurofibromatosis show up?

Signs might be present at birth. Others appear as you grow older. Dark spots on the skin can show up in the first few years of life, and groin and armpit markings may develop later in childhood. Symptoms of schwannomatosis generally appear in adults.

Should neurofibromas be removed?

If a tumor causes pain or weakness, your doctor may recommend 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.