Understanding Schwannomatosis
These tumors do not typically involve the skin. Schwannomas on both the hearing and balance nerves point to NF2-related schwannomatosis. A schwannoma on one side occurs rarely in the other forms and does not by itself rule the diagnosis out.
How Schwannomatosis Is Diagnosed
Diagnosis rests on imaging, pathology from a removed tumor, and genetic testing. Chronic pain with multiple non-skin schwannomas on MRI is often enough to raise the diagnosis; confirmation usually involves testing blood and, when possible, tumor tissue.
Symptoms and Genetics
Pain is the most common symptom of schwannomatosis. This can affect any part of the body. The pain can be chronic and can range from mild to severe. An organized pain management strategy is often necessary. Pain can even occur in areas where there is no known nerve involvement. Other signs and symptoms depend upon the precise nerves involved. Some of these problems include migraines, numbness, tingling, weakness and paralysis. Life expectancy is normal. Most cases are linked to a change in one of two genes, SMARCB1 or LZTR1, both on chromosome 22.* A change in one of these is found in roughly 70 to 80 percent of families with more than one affected member, but in only about 30 percent of people with no family history. Some patients have neither, and additional genes are still being identified. Most people with schwannomatosis have no family history of the condition.
What to Expect From Neurofibromatosis Surgery
A plain-language guide to surgical treatment for neurofibromatosis — written for patients and families deciding whether surgery is the right next step, and what to expect if it is.
- What NF1, NF2-related schwannomatosis (formerly NF2), and schwannomatosis each involve
- When surgery helps, when it doesn't, and what success realistically means
- How cutaneous and plexiform tumors are approached differently
- Electrodesiccation, surgical excision, and staged reconstruction compared
- What recovery and recurrence actually look like
- Questions to ask any surgeon before proceeding
What to Do If You Have Schwannomatosis
If you or a family member have been diagnosed with schwannomatosis, your first referral is often to a neurologist with expertise in the condition. A pain management specialist may be required to develop a long-term pain control strategy. Depending upon your symptoms and degree of tumor involvement, further referrals may be necessary to a peripheral nerve specialist such as Dr. Panossian. Removing schwannomas from major peripheral nerves requires familiarity with the condition and the workings of the nervous system. Call our office today to find out more.
* Diagnostic criteria and genetics per Plotkin SR, Messiaen L, Legius E, et al. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: an international consensus recommendation. Genet Med. 2022;24:1967–1977. doi:10.1016/j.gim.2022.05.007
Expert Schwannomatosis Care
Dr. Andre Panossian focuses his practice on facial reanimation, nerve reconstruction, and complex surgical care. He completed fellowship training in pediatric plastic surgery at the Hospital for Sick Children in Toronto under Dr. Ronald Zuker, and in vascular anomalies at Harvard-affiliated Boston Children's Hospital.
Whether you are seeking answers about your condition or exploring surgical options, Dr. Panossian can help you understand your choices and develop a personalized treatment plan tailored to your unique needs.
If you have been diagnosed with schwannomatosis, Dr. Panossian can help develop a comprehensive treatment plan tailored to your needs.