Neurofibromatosis is a genetic disorder of the nervous system. It affects growth and development of nerve cells and tissues and causes tumors on the nerves. There are 2 types: NF1, which is the more common typeNF2, which is a less common, but often more severe form
This disease is caused by a mutation in one of the genes of the body. About half the time, this mutation is inherited from a parent. The other half of the cases arise spontaneously. NF1 and NF2 are two separate syndromes caused by mutations of 2 different genes.
This mutation causes tumors to grow along the nerves of the body. It can also affect how tissues such as bones and skin develop. NF2, though more rare, tends to be more severe. Its tumors form along the cranial and spinal nerves, especially the auditory nerves. It also causes other lesions of the brain and spinal cord.
Symptoms of NF1 are often noticed at birth or during infancy. Almost all affected children will have symptoms by the age of 10. Symptoms include: changes in skin appearance, such as cafe-au-lait spotspea-sized bumps on or under the skinenlarged freckle-type spots under the arms or in the groin areaspots on the iris of the eye called Lisch nodulesbrain and spinal cord tumors
NF2 is much rarer and affects the brain and spinal cord more often. Classically, NF2 presents with tumors involved both acoustic and/or vestibular nerves (nerves that enable hearing and balance). Individuals may also have cataracts.
NF is not contagious, but it can be passed on from a parent to a child genetically.
At present, there is no known way to prevent NF once a child is born with the mutant gene, but much research is being done. Genetic testing and counseling for affected families may be needed to help parents make decisions about having children.
The healthcare professional begins with a thorough medical history and physical exam. He or she will look for changes in skin, tumors, and bone abnormalities. A parent or sibling with NF will also lead the professional to suspect NF in the child. When NF,is suspected, x-rays and MRI /CAT scans of the brain and spine may be ordered. Blood tests for both NF1 and NF2 are also available.
The effects of NF1 are mild to moderate in most people, but lead to learning disabilities in about half of the people who have it. Other problems that may occur with NF1 and/or NF2 include: high blood pressurecurvature of the spine, called scoliosispoor formation of the long bones, such as the femur in the legsspeech problemsseizure disorderscataractspoor body image due to skin discolorations and tumorsblindnessdeafnesscancer (rarely)
NF is not catching, but it can be passed on from a parent to a child genetically.
For the most part, treatment for NF is focused on controlling symptoms. Surgery may be used to help some NF1 bone malformations or to remove tumors that are painful or bothersome.
There is, however, a chance that tumors will grow back in greater numbers. NF1 tumors become malignant (cancerous) in only about 3 to 5 percent of cases. When they do, surgery, chemotherapy, or radiation may be used. For NF2, surgery and/or radiation therapy is occasionally recommended.
Side effects of treatments depend on the treatment used. Radiation and chemotherapy have many side effects including fatigue, immune system suppression, and hair loss.
Treatment of NF lasts a lifetime. Although NF cannot be cured, symptoms can usually be controlled.
All people with NF should be followed by a healthcare professional. Referral to a specialist for any vision or hearing problems should also be made. Children with NF should always have a yearly exam by an ophthalmologist or optometrist. Blood pressure should also be monitored for any elevation above a healthy range. Any new or worsening symptoms should always be reported to the healthcare professional.