Schwannomatosis is a very rare form of neurofibromatosis that has only recently been recognized and appears to affect about 1 in 40,000 individuals. It is less well understood than NF1 and NF2, and features may vary greatly between patients.
The distinguishing feature of schwannomatosis is the development of multiple schwannomas, tumors of the peripheral nervous system that arise in the nerve sheath and that are composed of Schwann cells.
Schwannomatosis can appear almost everywhere in the body. The dominant symptom is pain, which can be excruciatingly intense. Pain develops when a schwannoma enlarges, compresses nerves, or presses on adjacent tissue. Some people experience additional neurological symptoms, such as numbness, tingling, or weakness in the fingers and toes. Patients with schwannomatosis never have neurofibromas.
About one-third of patients with schwannomatosis have tumors only on a single part of the body, such as an arm, a leg, or a segment of the spine. The number of schwannomas on a patient can vary widely.
There is no currently accepted medical treatment or drug for schwannomatosis, but surgical management is often effective. When tumors are completely removed pain usually subsides, although it may recur if new tumors form. When surgery is not possible, ongoing monitoring and management of pain in a multidisciplinary pain clinic is advisable.
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