Early or late onset of puberty also may indicate further study. Diagnostic evaluations such as blood tests, X-rays and other tests may be ordered if there are additional concerns. Healthy children with NF1 are usually examined at six or month intervals. Adults with NF1 generally have standard physical evaluations and an examination of the skin for growths, spots, scoliosis, blood pressure, vision and screening for hearing loss.
Physicians should also be on the lookout for any new or enlarging mass or any new symptoms in general. Adults with NF1, who are otherwise healthy, usually have annual checkups. Patients with NF2 should have similar routine examinations and care. Known growths are often imaged with periodic surveillance scans with treatment reserved for enlarging or symptomatic growths.
There is no known treatment or cure for neurofibromatosis or schwannomatosis. Medication can be prescribed to help with pain.
In some cases, growths may be removed surgically or reduced with radiation therapy. Although surgery in these areas can cause further injury to nerves and additional neurological problems, it is usually well tolerated.
The benefits of surgery should always be weighed against its risks. Likewise, in situations where radiation treatment is an option, the risks and benefits must be carefully considered. The AANS does not endorse any treatments, procedures, products or physicians referenced in these patient fact sheets. This information is provided as an educational service and is not intended to serve as medical advice. Joint Providership.
Both are tumors that grow on nerves, but they have different causes. Research is ongoing to learn more about NF1 and other diseases causing nerve tumors.
Normally, every cell has 2 copies of each gene: 1 inherited from the mother and 1 inherited from the father. NF1 follows an autosomal dominant inheritance pattern, in which a mutation happens in only 1 copy of the gene. This means that a parent with a NF1 mutation may pass along a copy of their normal gene or a copy of the changed gene. Options exist for people interested in having a child when a prospective parent carries a gene mutation that increases the risk for this hereditary cancer syndrome.
It allows people who carry a specific known genetic mutation to reduce the likelihood that their children will inherit the condition. Eggs are removed from the ovaries and fertilized in a laboratory. When the embryos reach a certain size, 1 cell is removed and is tested for the hereditary condition in question. The parents can then choose to transfer embryos which do not have the mutation.
PGD has been in use for over 2 decades and has been used for several hereditary cancer predisposition syndromes. However, this is a complex procedure with financial, physical, and emotional factors to consider before starting. For more information, talk with an assisted reproduction specialist at a fertility clinic. NF1 is among the most common genetic conditions. It is estimated that as many as 1 in 3, people have an NF1 mutation. They have a de novo new mutation in the NF1 gene.
However, the children of anyone with NF1 have a higher risk of inheriting the condition. NF1 is diagnosed when a person meets the official diagnostic criteria for NF1 that was developed at a National Institutes of Health Consensus Conference in Based on these criteria, a person who has at least 2 of the following features is considered to have NF These spots must be more than 5 millimeters mm in diameter in young children and more than 15 mm in diameter after puberty. Specific bone changes, including sphenoid dysplasia, which is an abnormality of 1 of the bones forming the skull, or thinning of the long bones.
If a person has a family history of NF1, they are suspected of having NF1 if they have any features of the condition. Genetic testing for mutations in the NF1 gene is available for people diagnosed with NF1. This generally happens when a benign non-cancerous neurofibroma turns into a cancerous form called sarcoma, which grows much faster, invades nearby structures, and sometimes metastasizes spreads to other areas of the body. Screening recommendations may change over time as new technologies are developed and more is learned about NF1.
It is important to talk with your health care team about appropriate screening tests. In some areas, comprehensive NF1 clinics may be available to help with coordination of your medical care. Learn more about what to expect when having common tests, procedures, and scans. The usual treatment approach for any tumors associated with NF1 is to watch the person closely for signs of tumor growth or whether the person is having such symptoms as pain or weakness.
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. A new medication is available to treat tumors in children, and other new treatments are being developed. Neurofibromatosis 1 NF1 is usually diagnosed during childhood. Signs are often noticeable at birth or shortly afterward and almost always by age Signs and symptoms are often mild to moderate, but can vary in severity.
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 during 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, including the cranial, spinal, visual optic and peripheral nerves. People who have NF2 may also develop other benign tumors. This rare type of neurofibromatosis usually affects people after age Symptoms usually appear between ages 25 and 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.
Tumors don't usually grow on both hearing nerves, so people who have schwannomatosis don't experience the same hearing loss as people who have NF2. See your doctor if you or your child develop signs or symptoms of neurofibromatosis. The tumors associated with neurofibromatosis are often benign and slow growing. 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. The biggest risk factor for neurofibromatosis is a family history of the disorder. About half of people who have NF1 and NF2 inherited the disease from an affected parent. People who have NF1 and NF2 and whose relatives aren't affected are likely to have a new gene mutation.
The inheritance pattern for schwannomatosis is less clear. Complications of neurofibromatosis vary, even within the same family. Generally, complications result from tumors that affect nerve tissue or press on internal organs.
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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