Schwannomatosis is a rare form of NF that has only recently been recognized and appears to affect 1:40,000 individuals. Because it is so newly recognized, it is much less well understood than NF1 and NF2.
People with schwannomatosis develop multiple schwannomas on cranial, spinal, and peripheral nerves. Like the other forms of NF, schwannomatosis varies greatly between patients. Roughly one third of schwannomatosis patients have segmental schwannomatosis, where tumor formation is limited to a single part of the body (ie. one limb or one section of the spine).
People with schwannomatosis have problems with chronic pain that often exceeds their neurological problems. The first symptom is most often pain, which can occur in any part of the body. Schwannomas develop on the outside of the nerve, but may push it aside or against another structure causing damage. Surgical management of schwannomatosis can be effective, when a tumor is completely removed, pain often subsides. When surgery is not feasible, management with a multi-disciplinary pain clinic is advised.
As a newly recognized condition, data for developing diagnostic guidelines is limited. As such, the diagnostic criteria for schwannomatosis will be one the evolves as the condition becomes better understood. Presently, the diagnostic guidelines are as follows for definite schwannomatosis:
Possible additional diagnostic criteria for schwannomatosis includes:
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