Living with a rare condition can feel isolating, but our community is here for you. Schwannomatosis is a form of neurofibromatosis (NF) that causes the growth of benign tumors called schwannomas. While it shares a name with NF1 and NF2-related schwannomatosis, it is a distinct condition with its own unique characteristics.
Understanding Schwannomatosis
Schwannomatosis is the least common type of NF. It is defined by the development of multiple schwannomas, which are tumors that grow on nerve sheaths. Here are some of the key things to know:
Approximately one in 40,000 people are affected by schwannomatosis.
Symptoms and Management
Aside from chronic pain, symptoms often depend on the location of the schwannomas and can include numbness, tingling, or weakness in the affected areas of the body. Because this is a complex condition, management recommendations are based on each person’s specific symptoms.
It is essential to be cared for by a medical team with experience in schwannomatosis. These specialists can help with everything from pain management to considering surgery if needed. You can use our resources to find experienced NF care in your area.
Frequently Asked Questions
The diagnosis of schwannomatosis is typically based on clinical findings, requiring a person to have two or more schwannomas (with at least one confirmed by a pathologist) and a lack of evidence of a vestibular nerve tumor on an MRI performed after age 18. However, schwannomatosis can now also be diagnosed through genetic testing, and this is becoming increasingly common. Genetic classifications include LZTR1-associated schwannomatosis, SMARCB1-associated schwannomatosis, other 22q-associated schwannomatosis, and schwannomatosis NOS — the designation used when no genetic cause can be identified.
The genetics of schwannomatosis are complex and not yet fully understood. In some families, it is passed down from a parent, but in many cases, an individual is the first in their family to be diagnosed. Genetic counseling can be a helpful resource for families to understand their specific situation.
There is no single treatment for everyone with schwannomatosis. As of now, there are no medications proven to be effective against the tumors. Management focuses on addressing symptoms, primarily through a multidisciplinary approach, to pain management. Surgery to remove tumors may be considered to reduce pain or for tumors causing other neurologic problems, but it’s important to discuss the risks with a neurosurgeon experienced in schwannomatosis care.
Because so little is currently understood about schwannomatosis, it is difficult to determine a long-term prognosis. A person’s outlook is most often based on their specific symptoms and how they are managed. This is why it is so important to be followed by a medical provider or team with deep experience in schwannomatosis care.