Pain Management Health Center

Pain Management: Neurofibromatosis

How Is Neurofibromatosis Diagnosed? continued...

To receive a diagnosis of NF1, you must have 2 of the following symptoms:

• Six or more café au lait spots that are 1.5 cm or larger in post-pubertal individuals or 0.5 cm or larger in pre-pubertal individuals
• Two or more neurofibromas (tumor that develops from the cells and tissues that cover nerves) of any type or one or more plexiform neurofibroma (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

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 family relative) plus unilateral (on one side) vestibular schwannomas or any two of the following health conditions:
• Glioma (cancer of the brain that begins in glial cells, which are those that surround and support nerve cells)
• Meningioma (tumor that occurs in the meninges, the membranes that cover and protect the brain and spinal cord)
• Any neurofibromas
• Schwannoma
• Juvenile cataracts

How Is Neurofibromatosis Treated?

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

• Surgery to remove problematic growths or tumors
• Treatment that includes 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 associated pain

What Is the Outlook for a Person With NF?

The outlook for a person with neurofibromatosis depends on the type of NF they have.  Often, the symptoms of NF1 are mild and people who have it are able to lead full and productive lives. Sometimes, however, pain and deformity can result leading to significant disability. The outlook for people with NF2 depends of the person's age at the diseases onset and on the number and location of tumors. Some can be life-threatening. Often, those with schwannomatosis have severe pain, and this can be very debilitating.

Reviewed by the doctors at The Cleveland Clinic Pain Management Department.