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 aims to maximize healthy growth and development and to manage complications as soon as they arise. When neurofibromatosis causes large tumors or tumors that press on a nerve, surgery can help ease symptoms. Some people may benefit from other therapies, such as stereotactic radiosurgery or medications to control pain.
Neurofibromatosis care at Mayo Clinic
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There are three types of neurofibromatosis, each with different signs and symptoms.
Neurofibromatosis 1 (NF1) usually appears in childhood. Signs are often evident 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 (acoustic neuromas) in both ears. 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 the age of 20. Schwannomatosis causes tumors to develop on skull (cranial), spinal and peripheral nerves â but not 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.
Schwannomatosis causes chronic pain, which can occur anywhere in your body. Other symptoms 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.
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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:
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Your doctor will start with a physical examination and review of your medical history and family medical history.
NF1 often can be diagnosed based on physical examination. Your doctor may use a special lamp to check your skin for cafe au lait spots. A physical examination and family history are also important for a diagnosis of NF2.
Your doctor also might recommend:
For a diagnosis of NF1, you must have at least two signs of the condition. If your child has only one sign and no family history of NF1, your doctor will likely monitor the child for the development of any additional signs. A diagnosis of NF1 is usually made by age 4.
Genetic testing may help establish the diagnosis.
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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.
Source: http://www.mayoclinic.com
Caring for a child with a chronic condition such as neurofibromatosis can be a challenge. It may help to keep in mind that many children with neurofibromatosis grow up to live healthy lives with few, if any, complications.
To help you cope:
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The biggest risk factor for neurofibromatosis is a family history of the disorder. About half of people with NF1 and NF2 inherited the disease. NF1 and NF2 that isn't inherited results from new gene mutations.
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.
Source: http://www.mayoclinic.com
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