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:
- Neurofibromatosis-1 (NF1). NF1 generally causes changes to the skin or bones, tumors on the bones or tumors that grow throughout a lifetime. Skin changes can include tumors in the bottom layer of the skin (subcutaneous tumors) as well as large skin or nerve tumors that can, in rare cases, cause severe disfigurement. Many tumors caused by this disorder can occur in the brain. Only in rare cases are any of these tumors cancerous. The condition usually becomes apparent in childhood, and some infants are born with symptoms.
- Neurofibromatosis-2 (NF2). NF2 typically causes tumors on a particular cranial (head) nerve and often causes neurologic problems and damage to hearing and balance. This form of neurofibromatosis generally starts to appear in the teenage to young adult years and can cause other types of nerve tumors that are found along the spine or in the brain.
- Schwannomatosis. Schwannomatosis is a very rare condition that is related to NF2. It appears mostly in adults and causes intense pain that can occur in any part of the body. Schwannomatosis almost never affects children.
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:
- Attention-deficit/hyperactivity disorder (ADHD)
- Blindness from tumor compression of eye nerves
- Bowing of the long bones of the legs
- Colored, raised spots on the iris of the eye (Lisch nodules)
- Fractures in the long bones of the leg from abnormal growth (tibial dysplasia)
- Large, soft tumors (plexiform neurofibromas) under the skin or deeper in the body
- Learning disorders
- Sphenoid dysplasia (loss of some bones of the skull)
- High blood pressure
Symptoms of neurofibromatosis-2 may include:
- Balance problems
- Hearing loss or ringing in the ears (tinnitus)
- Skin tumors
Diagnosis of Neurofibromatosis
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:
- Your child's medical history
- Physical examination
- Eye exam
- Magnetic resonance imaging (MRI) to look at tumors inside the body
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:
- Eye exam
- Hearing and speech evaluation
- MRI of the brain and spinal cord
Key Points to Remember
Key Points to Remember
- Neurofibromatosis is a genetic disorder in which tumors (neurofibromas) grow on or around nerve tissue, including the brain.
- There are three types of neurofibromatosis. Neurofibromatosis-1 and neurofibromatosis-2 are the types that occur most frequently in children.
- The effects of neurofibromatosis vary greatly. Some children have almost no symptoms, while others are disfigured, blinded or have other severe symptoms.
- While neurofibromatosis is a genetic condition that cannot be cured, the symptoms are treatable.
- Children with neurofibromatosis should be evaluated once a year to follow progress of tumors and to detect new tumors.
Support Services & Resources
Support Services & Resources
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.
Riley Pediatric Cancer & Blood Disorders
575 Riley Hospital Dr
Indianapolis, IN 46202