What is Neurofibromatosis?

Neurofibromatosis (NF) is nervous system disease that causes skin defects and tumors on nerve tissues. It can also lead to other problems. The condition usually worsens over time. Although there is no known cure, treatment can help control symptoms.

The nerve tissue tumors begin in cells that protect nerves. These tumors can vary in size and occur anywhere in the body, including the skin, inner ear, brain, and spinal cord. Most are not cancerous, although some may turn cancerous over time.

The most common type of tumor is called a neurofibroma. This is a noncancerous growth that usually develops on or under the skin. The other common type of tumor is called a Schwannoma. These growths form in cells that help insulate nerves.

NF is a genetic disorder. Genetic disorders are caused by changes (mutations) in genes. They usually run in families.

Symptoms

There different types of NF. The signs and symptoms differ depending on the type.

Neurofibromatosis Type 1

Symptoms of NF1 include

• harmless, flat, light brown spots (café-au-lait spots) that appear at birth or during early childhood

• noncancerous tumors (neurofibromas) that typically grow close to the skin but may also occur deeper in the body; commonly occurs between ages 10 and 15

• freckles in the armpit, groin, other skin folds

• clumps of pigment in the colored portion of the eye

• a tumor on the nerve that connects the eye to the brain

• bone or skeletal problems, such as bowed legs or curvature of the spine

• learning disabilities, hyperactivity

• speech and vision problems

• headaches and seizures

• oversized head in children

• short stature

• high blood pressure.

The symptoms of NF1 tend to get worse over time.

Neurofibromatosis type 2

People with this disorder typically develop slow-growing, non-cancerous tumors on a specific nerve in the brain. Early symptoms usually involve hearing and balance problems. Some people also develop cataracts. Some develop other kinds of tumors.

Symptoms of NF2 include

• hearing loss, often in both ears

• ringing in the ears

• problems with balance, dizziness

• weakness, numbness, or tingling in an arm or leg

• vision problems such as cataracts (clouding of the eye's natural lens)

• facial numbness

• problems with speech and swallowing

• frequent and persistent headaches

• seizures.

Schwannomatosis

This disorder causes tumors on nerves of the brain and spinal cord and nerves in the arms and legs. Symptoms include intense pain that can occur in anywhere in the body. The pain is caused by tumors pressing on nerves or tissue. Numbness or tingling in the fingers and toes can also occur.

Diagnosis

Test for NF usually include:

• Complete physical and medical history. Your doctor checks for general signs of disease, health habits, and past illnesses and treatments. The doctor will also ask what medical conditions family members have or have had.

• Imaging studies. These include x-ray, ultrasound, magnetic resonance imaging (MRI), and computed tomography (CT) scans, to look for tumors or other problems.

• Biopsy. This test looks at small pieces of tumors under a microscope.

• Genetic testing. Blood tests can confirm if a person has NF1 or NF2. Sometimes family members are tested too. Be sure to talk to your doctor about the plusses and minuses of genetic testing before you agree to have it done.

• Skin exam. Your doctor can use special lamps to look for café-au-lait spots (for NF1)

• Ear exam and hearing test. This is done to check for NF2.

To determine if a person has NF1, doctors look for at least two of the following:

• six or more café-au-lait spots

• neurofibromas

• freckles in the armpit or groin

• pigment clumps in the eye

• a tumor on the optic nerve

• bone problems in the spine, skull, or leg

• a parent, sibling, or child with NF1.

To determine if a person has NF2, doctors looksfor tumors on specific nerves. They also look for

• a family history of the disease

• certain eye tumors

• cataracts that start during childhood.

Although the skin problems connected with NF1 often appear at birth or shortly afterwards, other symptoms typically don't appear until later. With NF2, tumors grow slowly and may not be found for many years—usually during the teens and early 20s.

Prevention

NF occurs when a gene suddenly changes. Right now, there is no way to prevent this disease. With NF1 and NF2, a parent with an abnormal gene has a 50% chance of passing it on to each of his or her children. Tests can be performed during pregnancy to determine whether a fetus carries the defective gene.

Treatment

Treatment for NF depends on

• the patient's age, health, and medical history

• the symptoms

• which nerves are affected

• the expected progression of the disease.

Although there is no known cure for NF, surgery and other treatments can help to relieve symptoms. A person with NF may have several medical specialists to treat the disease.

Neurofibromatosis Type 1

• Tumors: Surgery may remove painful or disfiguring growths. However, tumors may grow back and in greater numbers.

• Optic tumors: Treatment options include surgery, radiation, and chemotherapy. It can be difficult to remove these growths. Surgery may harm vision.

• Curvature of the spine: Surgery or a back brace may be used.

• Cancerous tumors: These are rare. Treatment options include surgery, radiation, and chemotherapy.

• Headache and epileptic seizures: Medication can help.

Children with NF1 should have a thorough neurological exam before entering school because of the higher-than-average risk for learning disabilities. Parents and teachers of children already in school should watch for learning problems.

Neurofibromatosis Type 2

Surgery, radiation, and monitoring are the three main treatment approaches.

• Surgery: There are several surgical options for removing growths and cataracts, as well as for other eye problems.

• Radiation: A special type of surgery that uses radiation is an option in some cases. Radiation can help limit a tumor's growth.

• Monitoring: For some patients, it may be best to simply follow the growth of tumors until treatment is needed. This is called active surveillance. Patients with NF2 should have an annual neurological checkup. It is also wise to get thorough eye and hearing exams each year.

Schwannomatosis

Surgery to remove tumors can help ease pain, although the pain may return if new tumors form. Specialized doctors can help with pain management.

Treatment options

The following list of medications are in some way related to or used in the treatment of this condition.

• Koselugo
• selumetinib
• bevacizumab

When To Call a Professional

Contact your doctor if you or your child has symptoms of NF.

Prognosis

NF progresses differently for each person. It is hard to predict the course of the disease. A person's prognosis depends on the types and locations of tumors that he or she develops.

Neurofibromatosis type 1: Most people will have mild to moderate symptoms that worsen over time. Patients can live normal and productive lives. In some cases, however, NF1 can affect quality of life.

Neurofibromatosis type 2: These tumors generally grow slowly. Balance and hearing may become worse over time. Sometimes tumors grow next to vital structures, such as the brain. If they are not treated, this situation can be serious.

Schwannomatosis: Some patients have mild pain, but most have significant pain. Pain can be managed with treatment.

Additional Information

National Institute of Neurological Disorders and Stroke

National Institutes of Health Neurological Institute

P.O. Box 5801

Bethesda, MD 20824

Phone: 301-496-5751

Toll-free: 800-352-9424

TTY (for people using adaptive equipment): 301-468-5981

http://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm

Neurofibromatosis Network

213 S. Wheaton Ave.

Wheaton, IL 60187

Phone: 630-510-1115

http://www.nfnetwork.org

The Children's Tumor Foundation
95 Pine Street, 16th Floor

New York, N.Y. 10005

Phone: 212-344-6633
Toll Free: 800-323-7938

http://www.ctf.org/

Harvard Medical School Center for Neurofibromatosis and Allied Disorders

Simches Research Center

185 Cambridge St.

Boston, MA 02114

Phone: 617-724-2365