Definition:
Schwannomatosis is a disorder that causes tumors, known as Schwannomas to grow on nerves in the peripheral nervous system. It is a form of a genetic disorder known as Neurofibromatosis, an autosomal dominant genetic disorder. In Schwannomatosis, there is a great possibility that the nerves in the head and peripheral nerves may be affected.
Diagnosis:
Schwannomatosis is diagnosed based on the clinical symptoms that appear. The presence of multiple Schwannomas is the fundamental diagnostic criterion, which are seen by means of CT (Computed Tomography) scan, MRI (Magnetic Resonance Imaging) or X-ray.
Treatment:
Surgical removal is usually recommended to remove the tumor, however there are possibilities that the tumor may come back after surgery. There are no medications that can cure Schwannomatosis; surgery and pain management are the only options for a person with Schwannomatosis.
Symptoms and Signs:
A person suffering from Schwannomatosis will have Schwannomas, a kind of tumor stemming from the Schwann cells. Most likely, multiple Schwannomas will appear and develop usually on cranial, spinal, and peripheral nerves. These presentations will be coupled with chronic pain and intermittent tingling, numbness, and weakness in the area where the tumor is located.
About 1/3 of patients exhibit the presence of segmental Schwannomatosis or the presence of tumors limited to one area of the body like the leg, arm or spine. In some cases, vestibular Schwannomas are present.
Causes:
In many cases of Schwannomatosis, there were some studies that link mutation in the NF2 gene as the primary cause of Schwannomatosis. It is a known genetic disorder.
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