What is Neurofibromatosis?

Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue in the brain, spinal cord and nerves. These tumors are typically benign, but in rare cases they can become cancerous. 

Neurofibromatosis Symptoms

NF1 Symptoms

Symptoms of neurofibromatosis 1 (NF1) are often mild and develop by early childhood. They may include:

• Bone deformities like scoliosis or a bowed lower leg
• Café au lait spots – six or more of these flat, light brown spots can indicate the condition
• Freckling in the armpits or groin
• Larger-than-average head size
• Learning disabilities, usually mild
• Lisch nodules, tiny bumps on the iris of the eye
• Neurofibromas, which feel like soft bumps on or under the skin or may be found inside the body
• Tumor on the optic nerve

NF2 Symptoms

Symptoms of neurofibromatosis (NF2) often appear in the late teen or early adult years and can vary in severity. They may include:

• Balance difficulties
• Facial drop
• Gradual hearing loss
• Headaches
• Numbness or weakness in the arms and legs
• Pain
• Poor balance
• Ringing in the ears
• Vision problems or cataracts

Schwannomatosis, the rarest type of neurofibromatosis, usually affects people after age 20. Symptoms may include:

• Chronic pain anywhere in the body
• Loss of muscle mass
• Numbness or weakness in various body parts

NF1 vs NF2

Diagnosis

To determine if someone has neurofibromatosis, we conduct a thorough physical examination and ask about family history. We then use advanced diagnostic procedures and technology to effectively diagnose, inform treatment and carefully monitor the condition. Diagnostic procedures can include:

Ear Exams

Tests like audiometry, electronystagmography and brainstem auditory evoked response can help physicians assess hearing and balance problems in people with NF2.

Eye Exams

Through a thorough eye examination, a physician can detect Lisch nodules, cataracts and tumors on the optic nerve.

Imaging

X-rays, CT scans or MRIs can help physicians identify bone abnormalities, tumors in the brain or spinal cord and small tumors on nerve tissue throughout the body. An MRI can help identify optic nerve tumors. Imaging tests can help a physician monitor NF2 and schwannomatosis.

Genetic Tests

Tests to identify NF1and NF2 are available and can, in some cases, be used to make the diagnosis before a baby is born. 

Causes

Neurofibromatosis is caused by genetic defects passed on by a parent or occurring spontaneously at conception. Its development is not influenced by lifestyle factors or specific behaviors. Genes involved depend on the type.

• The NF1 gene is located on chromosome 17. Its mutation causes the loss of a protein called neurofibromin that helps regulate cell growth.
• The NF2 gene is located on chromosome 22. Its mutation causes the loss of a protein called merlin that also helps regulate cell growth.    
• So far, two genes are known to cause schwannomatosis, which used to be considered a subtype of NF2.

Risk Factors

Some cases of neurofibromatosis are caused by new gene mutations. The biggest risk factor for its development is:

Family history: About half of people with NF1 and NF2 inherit the disease. Any child of a parent with the disorder has a 50 percent chance of inheriting the genetic mutation. The inheritance pattern for schwannomatosis is less clear. 

Prevention

Neurofibromatosis cannot be prevented. People with a family history of the disorder can undergo genetic testing and counseling to determine if they are at risk for transmitting it to their children.

Prognosis

Most NF1 symptoms will worsen over time, going from mild to moderate. Existing tumors may continue to grow and new tumors may develop. Life expectancy is typically normal.

In NF2, the course of the condition varies greatly. Existing tumors may continue to grow and new tumors may arise.  Vestibular schwannomas, unique to NF2, tend to grow slowly, with balance and hearing deteriorating over a period of years. Life expectancy is typically normal.

In schwannomatosis, pain typically worsens to moderate or severe. Schwannomatosis can lower quality of life but does not impact life expectancy,

Treatment and Recovery

Baptist Health is known for advanced, superior care in diagnosing and treating neurofibromatosis. You will appreciate timely appointments and a professional, friendly atmosphere where we take time to listen to your concerns. At Baptist Health, you have access to the region’s most comprehensive, multidisciplinary team of specialists and innovative therapies, including many available only through specialized clinical trials. In every way, we work to demonstrate the utmost in excellent care to those who trust us with their health.

• We have the region’s only advanced 3Tesla, MRI, MRI spectroscopy and functional MRI technology to accurately diagnose neurologic disease and treat the tumors associated with neurofibromatosis.
• Baptist Health Paducah has the region’s only Stereotactic Radiosurgery Program specializing in safe, quick and comfortable treatment of the tumors, without surgery, in some patients with neurofibromatosis.

Baptist Health neurofibromatosis treatment aims to maximize healthy growth and development and to manage complications. It may include:

Auditory Brainstem Implants and Cochlear Implants

These devices can help improve hearing loss associated with NF2.

Cancer Therapies

If the tumors associated with neurofibromatosis become cancerous – a rare development – they can be treated with surgery, chemotherapy and radiation.

Medications

Pain medications are especially useful for patients with schwannomatosis (and sometimes with NF2), who experience chronic and sometimes severe pain. These medications may include those designed specifically to treat nerve pain, tricyclic antidepressants, serotonin and norepinephrine reuptake inhibitors, or epilepsy drugs.

Monitoring

For NF1, especially, physicians usually monitor the condition through annual, age-appropriate checkups to assess new or changing neurofibromas; check for signs of high blood pressure; evaluate growth, development and skeletal changes; monitor learning development; and assess eye health. Serial brain or spine imaging with MRI or CT may be done.

Stereotactic Radiosurgery

This procedure delivers radiation to a tumor without requiring an incision. This might be an option to remove acoustic neuromas in NF2, and it can help preserve hearing.

Surgery

If a tumor is causing serious symptoms, compressing nearby tissue or damaging an organ, surgery may be the best option. For patients with NF2, surgery to remove acoustic neuromas can improve hearing loss or brainstem compression. For patients with schwannomatosis, removing schwannomas can ease pain significantly. Recovery from surgery depends on the type of procedure and location of the tumor. 

Complications

NF1 can cause the following complications:

Appearance concerns: Visible signs of neurofibromatosis, like extensive cafe au lait spots or numerous neurofibromas in the facial area, trunk, arms and legs may cause emotional distress.

Benign adrenal gland tumors: These noncancerous tumors secrete hormones that can raise blood pressure.

Breathing problems: Rarely, neuromas can put pressure on the airway.

Cardiovascular problems: Those with NF1 are at a higher risk for high blood pressure and blood vessel abnormalities.

Cancer: Approximately 3 to 5 percent of people with NF1 develop cancerous tumors arising from under the skin. They also have an elevated risk of certain soft tissue cancers, brain tumors, breast cancer and leukemia.

Hormone-related problems: Hormonal changes during puberty, pregnancy or menopause might cause an increase in neurofibromas.

Neurological problems: Learning and thinking difficulties are common neurological problems associated with NF1.

Skeletal problems: NF1 can sometimes cause scoliosis (curvature of the spine), bowing of the leg bones and fractures that don’t heal easily.

Vision problems: If a tumor on the optic nerve develops, a child may have vision problems.

NF2 can cause the following complications:

Brain and spinal tumors: These may require frequent surgeries.

Facial nerve damage: Tumors pressing on a facial nerve can cause numbness, facial drop and more.

Hearing loss: Certain acoustic neuromas can cause partial or total deafness.

Vision problems: Cataracts and other eye anomalies can affect vision.

Schwannomatosis can cause severe pain, numbness or bumps under the skin from tumors, which may require surgical treatment or medical management by a pain specialist.