Schwannomatosis

Schwannomatosis is a rare form of neurofibromatosis that is less understood than NF1 and NF2. It is a genetic disorder that affects the nervous system and is characterized by the development of benign tumors, known as schwannomas, on the nerves.

Symptoms

The main symptom of Schwannomatosis is pain, which can occur in any part of the body. Other symptoms may include numbness, tingling, and weakness in the affected area. The symptoms can vary greatly from person to person, and some people may experience no symptoms at all.

Causes

Schwannomatosis is caused by mutations in the SMARCB1 and LZTR1 genes. These mutations are not inherited, but occur spontaneously in the body's cells during a person's lifetime. The exact reason why these mutations occur is not known.

Diagnosis

Diagnosis of Schwannomatosis is based on clinical criteria, including the presence of two or more non-intradermal schwannomas, one of which has been confirmed by histopathology, with no evidence of vestibular schwannoma on high-quality MRI, and no known NF2 mutation in blood.

Treatment

Treatment for Schwannomatosis is primarily aimed at managing symptoms. This may include pain management, physical therapy, and, in some cases, surgery to remove tumors. However, surgery is not always possible due to the location of the tumors.

See also

• Neurofibromatosis
• Schwannoma
• SMARCB1
• LZTR1

References

Schwannomatosis Resources
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