Neurofibromatosis is a genetic disorder in which tumors (neurofibromas) grow on or around nerve tissue, including the brain. It is genetic and can be passed from parents to children.
Most children with neurofibromatosis have brown patches (café au lait spots) on their skin. Tumors caused by neurofibromatosis are usually benign but can become cancerous. The effects of this condition vary greatly. Some children have almost no symptoms while others experience disfigurement or blindness.
There are three types of neurofibromatosis:
NF1 and NF2 are caused by mutations in two different genes. These mutations can be passed from parent to child, with a 50 percent chance that a child with one parent who has the condition will receive it from that parent. The mutation can also happen without being passed from a parent.
Symptoms of neurofibromatosis-1 may include:
Symptoms of neurofibromatosis-2 may include:
Doctors at Riley at IU Health diagnose neurofibromatosis based on symptoms. Genetic testing can confirm the diagnosis as either NF1 or NF2. Other tests and information that may be used to make a diagnosis include:
Neurofibromatosis is a genetic condition that cannot be cured. However, doctors can treat the symptoms of the condition. They can remove tumors that cause pain or loss of function. They may also remove tumors that grow quickly, because these tumors could become cancerous. If a tumor is cancerous it can be treated with a combination of chemotherapy and surgery. Tumors in the ears from NF2 can be treated with surgery or radiation.
Children with neurofibromatosis should be evaluated once a year to follow progress of tumors and to detect new tumors. Tests used to evaluate tumors include:
Visit the trusted websites below to learn more about neurofibromatosis, including information about support groups and research.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
This consortium conducts clinical trials with the goal of improving the lives of those with neurofibromatosis. The consortium includes 13 clinical recruitment sites, including Indiana University.
The Neurofibromatosis Network is a national organization that advocates for federal funding for research as well as creation of local organizations that support those with neurofibromatosis.
The Children’s Tumor Foundation is an organization that aims to improve the health and well-being of those with neurofibromatosis.
NF Midwest serves those with neurofibromatosis in Illinois, Indiana, Iowa, Kentucky, Wisconsin and the eastern half of Missouri. The organization works to educate and comfort patients and families, improve clinical care and fund research.
The National Institute of Neurological Disorders and Stroke maintains a fact sheet about neurofibromatosis, which is also available in Spanish.
The Acoustic Neuroma Association provides national and local support networks for those affected by an acoustic neuroma (tumors that occur on the nerve leading from the brain to the inner ear). This condition is often associated with NF2.
The Cancer & Blood Diseases Department at Riley at IU Health is developing and testing new procedures to treat cancerous as well as noncancerous tumors that occur in both NF1 and NF2. We are one of the few centers in the U.S. to be involved in this research. Ask your child's doctor for more information about our research studies and clinical trials.
In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.
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