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SCHWANNOMATOSIS
Schwannomatosis is a disorder characterized by multiple noncancerous (benign) tumors called schwannomas, which are a type of tumor that grows on nerves. Schwannomas develop when Schwann cells, which are specialized cells that normally form an insulating layer around the nerve, grow uncontrollably to form a tumo. The doctors there will undertake a series of tests to look for signs of NF2 including skin and eye checks, head and spine MRI scans and genetic testing. It may be necessary for the genetic testing to be done both on schwannomas that have been removed and blood samples before the diagnosis is clarified. The signs and symptoms of schwannomatosis usually appear in early adulthood. The most common symptom is long-lasting (chronic) pain, which can affect any part of the body. In some cases, the pain is felt in areas where there are no known tumors. The pain associated with this condition ranges from mild to severe and can be difficult to manage. Other signs and symptoms that can occur with schwannomatosis depend on the location of the tumors and which nerves are affected. These problems include numbness, weakness, tingling, and headaches. The life expectancy of people with schwannomatosis is normal.
- Difficulty with urinating or bowel dysfunction.
- Facial weakness.
- Headaches.
- Lumps or swollen areas where tumors form under the skin.
- Numbness.
- Vision changes.
- Weakness
Pain is the most common symptom of schwannomatosis. This can affect any part of the body. The pain can be chronic and can range from mild to severe. An organized pain management strategy is often necessary. Pain can even occur in areas where there is no known nerve involvement. Other signs and symptoms depend upon the precise nerves involved. Some of these problems include migraines, numbness, tingling, weakness and paralysis. Life expectancy is normal.
As with the other types of neurofibromatosis, there is a genetic mutation that results in the loss of tumor suppression. The gene is different than NF-1 or NF-2. Most cases of schwannomatosis have no known family history of the condition. Little more is known about this condition other than its similar inheritance pattern to other NF variants.
Genetic testing is not always necessary to make the diagnosis. Symptoms of chronic pain and MRI findings are often enough to have a strong diagnosis.
If you or a family member have been diagnosed with schwannomatosis, your first referral is often to a neurologist with expertise in the condition. A pain management specialist may be required to develop a long-term pain control strategy. Depending upon your symptoms and degree of tumor involvement, further referrals may be necessary to a peripheral nerve specialist such as Dr. Panossian. Removing schwannomas from major peripheral nerves requires familiarity with the condition and the workings of the nervous system. Call our office today to find out more.
Treatement
- Schwannomatosis patients represent 2.4% to 5% of patients undergoing surgical resection of their schwannomas.
- In isolated regions of the body schwannomas are small and difficult to locate. Intraoperative sonography offers invaluable assistance in such cases by localizing small schwannomas and decreasing operative time and extent of the surgical incision.
- If feasible, the schwannomas can be surgically removed. Any tumor-associated pain usually subsides after tumor removal. Damaged nerves and scar tissue can be a result of surgery and pain can be an ongoing problem.
- Sometimes, a tumor will reappear at the same site after surgery.
- If surgery is unfeasible, then pain management will have to be used. Schwannomatosis can sometimes cause severe, untreatable pain over time.
- Other than surgery and/or pain management, there are no other medical treatments available. There are no drugs available to treat Schwannomatosis.
- Gamma knife radiosurgery can be performed on head tumors to help stop growth of a tumor, although there is no guarantee that it will work. The University of Pittsburgh published their experience with over 829 cases and reported 97% of patients had long term tumor control (defined as requiring no further treatment) with Gamma knife radiosurgery
- Recently, many advances are being made in the treatment of schwannomas. Of interest is Cyberknife manufactured by Accuray. Success rates, although limited in data, appear to be in the low to mid ninety percent range.
- As most schwannomas are benign, many doctors will take the “watch and wait” approach and leave the tumors alone until they start causing harmful side effects. Schwannomatosis patients have multiple tumors and the risks of having so many surgeries outweigh the benefits.
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