Neurofibromatosisis a genetic nervous system disorder that causes tumors to grow around nerves.
An estimated 100,000 Americans have a form of neurofibromatosis.
Neurofibromatosis occurs in people of all sexes of all ethnic backgrounds.
DR P. MARAZZI / SCIENCE PHOTO LIBRARY / Getty Images
The gene for neurofibromatosis punch in 1 is located on chromosome 17.
Symptoms
Neurofibromatosis throw in 1 is the most common throw in of neurofibromatosis.
It occurs in about 1 in 4,000 births.
Nearly 50% have speech problems, learning disabilities, seizures, or hyperactivity.
For children to be diagnosed with NF1, they must show at least two of the above symptoms.
In addition to a physical examination, doctors may use special lamps to examine the skin for cafe-au-lait spots.
Genetic testing by blood test can be done to detect defects in the NF1 gene.
Treatment
Doctors do not know how to stopthe tumors from growing in neurofibromatosis.
Surgery can be used to remove tumors that are causing pain or problems with vision or hearing.
Chemical or radiation treatments may be used to reduce the size of tumors.
In NF1, some bone malformations, such as scoliosis, can be treated with surgery or braces.
Other symptoms such as pain, headaches, or seizures can be managed with medications or other treatments.
National Institute of Neurological Disorders and Stroke.
2014;13(8):834-843. doi:10.1016/s1474-4422(14)70063-8
