Neurofibromatosis, also known as NF, is a genetic disorder that affects 1 in every 3,000 people. There are three types of NF: NF1, NF2, and schwannomatosis. Schwannomatosis is a rare form of neurofibromatosis that has only recently been identified. The genetic disorder affects less than 1 in 40,000 people, and causes the development of benign tumors — called schwannomas — usually on spinal and peripheral nerves. These tumors develop when Schwann cells, which form the insulating cover around nerve fibers, grow abnormally. Tumor development appears to be primarily related to a change, or mutation, in certain genes that help regulate cell growth in the nervous system. These mutations prevent the genes from making the normal proteins that control cell proliferation, allowing cells to multiply excessively and form tumors. These tumors may cause pain that may be hard to manage. Schwannomatosis is usually diagnosed in adulthood.
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Signs of schwannomatosis usually occur between the ages of 30 and 60, though they can occur at any age. The most common is chronic pain, which can occur anywhere in the body. It is believed to be caused at least in part by schwannomas pressing on nerves. In some cases, the pain that people experience is disproportionate to the size of the tumors that are present. Also, the intensity and frequency of pain varies significantly among individuals who are affected. While most people with schwannomatosis experience some degree of pain that requires medical management, a small number of people have only mild pain. Although some people may also experience neurological symptoms, many people with schwannomatosis experience pain as the only symptom for several years before the source of the pain is identified. For this reason, the condition is often difficult to diagnose. Other signs of schwannomatosis may include:
The main clinical manifestation of schwannomatosis is the development of schwannomas, distinctive tumors that grow on peripheral nerves. These often slow-growing tumors remain on the outside of the nerve, but they can push the nerve aside or press it against a bony structure or other tissue, causing pain and complications. Unlike neurofibromas found in people with NF1, schwannomas are typically located deeper inside the body. Some people with schwannomatosis develop tumors throughout their body, while others may have only one or two tumors throughout their lifetime. Schwannomas are the same type of tumors that develop in people with NF2, although schwannomatosis lacks many of the clinical features common in people with NF2. The most important distinction is that people with schwannomatosis typically don't develop tumors on the vestibular nerve that cause hearing loss in individuals with NF2 (although rare cases have been reported). Also, other types of tumors that can occur in people with NF2 (including meningiomas, ependymomas, and astrocytomas) don’t occur in those with schwannomatosis, with rare exceptions. Features of NF1, such as learning problems and café au lait spots, are also not present in people with schwannomatosis.
Schwannomatosis can be difficult to diagnose because symptoms vary widely among affected individuals, and many of the symptoms are shared by other disorders. For these reasons, it’s important to know that an accurate diagnosis of schwannomatosis can only be made by a physician with expertise in the diagnosis and treatment of neurofibromatosis. Criteria for a clinical diagnosis includes any ONE of the following:
Genetic mutations associated with schwannomatosis can be detected with genetic testing, using DNA extracted from blood or tumor samples. Genetic testing might be appropriate for people who want to confirm a diagnosis or a suspected case of schwannomatosis, or those at risk of developing the disorder who are interested in early detection. However, it’s important to understand that current genetic testing doesn’t reveal a mutation in all affected individuals, and there may be additional genes responsible for the disorder in some people yet to be discovered. For guidance and information about the suitability of genetic testing, it’s important to consult a physician who specializes in the treatment of schwannomatosis or a genetic counselor, who has specialized training in medical genetics and counseling.
There is currently no cure for schwannomatosis, and no medication that has been shown to be effective in treating schwannomas. Management of the condition is based on the specific symptoms a person develops. Surgical intervention to remove schwannomas can occur, depending on a person’s particular case of schwannomatosis. Anytime surgery is considered for a person with schwannomatosis, it’s important that a surgeon experienced in schwannomatosis care be involved to ensure the best possible outcome. In patients for whom surgical removal of tumors isn’t possible, pain management is usually an integral part of care. Patients are best served in an NF clinic where multidisciplinary specialists experienced in schwannomatosis can administer pain management protocols that have been shown to be effective for people with this condition.
Because of the small number of people that have been diagnosed with schwannomatosis, and because of the little amount of information that doctors have about what causes this condition and how to treat it, the International Schwannomatosis Database (ISD) project is proposing to bring together people with this diagnosis and people studying and managing this condition around the world. ISD is collecting limited information on all schwannomatosis patients, their symptoms, and their management and medication. The aim is that the information collected will help improve how patients are cared for, with the goal of understanding more about the symptoms of schwannomatosis and making treatment as effective as possible.
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NF is one of the world’s most common genetic disorders. But it takes many forms, and can be hard to diagnose and treat.
Research is the key. And the NF Registry is the key to research. If you have been diagnosed with any form of neurofibromatosis (including NF1, NF2, and schwannomatosis), or if your child has NF, unite with thousands of others with NF and join the NF Registry today.