Neurofibromatosis
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Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue. These tumors can develop anywhere in your nervous system, including your brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood.
The tumors are usually noncancerous (benign), but sometimes can become cancerous (malignant). Symptoms are often mild. However, complications of neurofibromatosis can include hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain.
Neurofibromatosis treatment focuses on encouraging healthy growth and development in children affected with the disorder and early management of complications. When neurofibromatosis causes large tumors or tumors that press on a nerve, surgery can reduce symptoms. Some people may benefit from other therapies, such as stereotactic radiosurgery or medications to control pain.
Neurofibromatosis care at Mayo Clinic
There are three types of neurofibromatosis, each with different signs and symptoms.
Neurofibromatosis 1 (NF1) usually appears in childhood. Signs are often noticeable at birth or shortly afterward, and almost always by age 10. Signs and symptoms are often mild to moderate, but can vary in severity.
Signs and symptoms include:
Neurofibromatosis 2 (NF2) is much less common than NF1. Signs and symptoms of NF2 usually result from the development of benign, slow-growing tumors in both ears (acoustic neuromas), which can cause hearing loss. Also known as vestibular schwannomas, these tumors grow on the nerve that carries sound and balance information from the inner ear to the brain.
Signs and symptoms generally appear in the late teen and early adult years, and can vary in severity. Signs and symptoms can include:
Sometimes NF2 can lead to the growth of schwannomas in other nerves of the body, including the cranial, spinal, visual (optic) and peripheral nerves. Signs and symptoms of these schwannomas can include:
This rare type of neurofibromatosis usually affects people after age 20. On average, symptoms appear between ages 25 and 30. Schwannomatosis causes tumors to develop on the cranial, spinal and peripheral nerves — but rarely on the nerve that carries sound and balance information from the inner ear to the brain. Because tumors don’t usually grow on both hearing nerves, schwannomatosis doesn’t cause the hearing loss experienced by people with NF2.
Symptoms of schwannomatosis include:
See your doctor if you or your child develops signs or symptoms of neurofibromatosis. The tumors associated with neurofibromatosis are often benign and slow growing. So although it’s important to obtain a timely diagnosis, the situation isn’t an emergency.
Neurofibromatosis is caused by genetic defects (mutations) that either are passed on by a parent or occur spontaneously at conception. The specific genes involved depend on the type of neurofibromatosis:
In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes (autosomes). You need only one mutated gene to be affected by this type of disorder. A person with an autosomal dominant disorder — in this case, the father — has a 50 percent chance of having an affected child with one mutated gene (dominant gene) and a 50 percent chance of having an unaffected child with two normal genes (recessive genes).
The biggest risk factor for neurofibromatosis is a family history of the disorder. About half of people with NF1 and NF2 inherited the disease from the affected parent. People with NF1 and NF2 that don’t have affected relatives likely have a new gene mutation.
NF1 and NF2 are both autosomal dominant disorders, which means that any child of a parent with the disorder has a 50 percent chance of inheriting the genetic mutation.
The inheritance pattern for schwannomatosis is less clear. Researchers currently estimate that the risk of inheriting schwannomatosis from an affected parent is about 15 percent.
Complications of neurofibromatosis vary, even within the same family. Generally, complications result from tumor growth distorting nerve tissue or pressing on internal organs.
Complications of NF1 include:
Complications of NF2 include:
The pain caused by schwannomatosis can be debilitating and may require surgical treatment or management by a pain specialist.
Neurofibromatosis care at Mayo Clinic
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Neurofibromatosis
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