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Neurofibromatosis (NF) is a neurocutaneous syndrome that can affect many parts of the body, including the brain, spinal cord, nerves, skin, and other body systems. NF can cause growth of non-cancerous tumors on nerve tissue, producing skin and bone abnormalities. Effects of NF vary widely some children live almost unaffected by it; rarely, others can be severely disabled. NF is defined by tumors, called neurofibromas, that grow along nerves in the body or on or under the skin. As the tumors increase in size, they can press on vital areas of the body, causing problems in the way the body functions. Neurofibromas often first appear in childhood, especially during puberty. NF is occasionally diagnosed in infancy (in children with more apparent cases), but more often in kids between 3 and 16 years old. The first noticeable sign is almost always the presence of brown caf au lait spots. These distinctive spots don't hurt or itch and never progress to anything more serious than spots. They can be found anywhere on the body, though not usually on the face. Tiny ones freckles may be seen under the arms or in the groin area. Many neurofibromas can be removed. Although usually benign (noncancerous), an estimated 3%-5% become cancerous. There's no specific cure for NF, but tumors usually can be removed and complications treated. Because learning disabilities occur in about half the children with NF, some might need extra help in the classroom. Continue BackContinue BackContinue BackContinue Back
Types of NF
Of the two types of neurofibromatosis NF1 and NF2 NF1 is more common, occurring in 1 of every 2,500-3,000 births and affecting an estimated 100,000 Americans. It is also known as von Recklinghausen disease. NF2 is characterized by the presence of bilateral acoustic neurofibroma-like tumors and is rarer, seen in 1 in 25,000 births. People with NF2 usually develop benign tumors on the nerves in their ears, causing hearing loss, eventual deafness, and problems with balance.
The severity of both types of neurofibromatosis varies greatly. In families where more than one person has NF, it can present with different physical signs and complications for each person. At diagnosis, it isn't possible to know right away whether a case will be mild or lead to severe complications.
Causes of NF
Both types of neurofibromatosis are autosomal dominant genetic disorders, which means an affected person has 1 chance in 2 of passing it on with each pregnancy. Neurofibromatosis also can be the result of a spontaneous change (mutation) in the genetic material of the sperm or egg at conception in families with no previous history of NF. About half of cases are inherited, and the other half are due to spontaneous genetic mutation. NF 1 and NF 2 are each related to changes in separate genes:
The NF1 gene is located on chromosome 17. NF2 has been traced to chromosome 22.
These findings are important because they have led to the development of a genetic test that can reliably confirm NF in affected individuals.
Other symptoms of NF2 include continuous ringing in the ears, headache, facial pain or weakness, and feeling unsteady or off balance. BackContinue
Diagnosis
Neurofibromatosis is usually diagnosed based on a combination of findings. A child must have at least two of the following signs to be diagnosed with NF1:
caf-au-lait spots of a certain number, size, and location the appearance of two or more neurofibromas (often resembling pea-sized bumps on the skin) Lisch nodules on the irises an optic glioma (tumor along the main nerve of the eye that is responsible for sight) certain skeletal abnormalities a family member with NF1 freckling under the arms or in the groin
Tests like magnetic resonance imaging (MRI) and X-rays may be used to screen for tumors or evidence of skeletal problems. A child's head circumference will be measured, as kids with symptoms of NF can have a circumference that's larger than normal for their age. Blood pressure will be monitored. Doctors also take a detailed personal history, looking for signs of learning difficulties. To diagnose NF2, doctors will check for any evidence of hearing loss. They'll order audiometry (hearing tests) as well as imaging tests to look for tumors in the nerves of the ears, spinal cord, or brain. They'll also determine if there's a family history of NF2. Genetic testing is now available for people with a family history of either NF1 or NF2. Although testing is still not 100% sensitive, recent advances have increased sensitivity to over 90%. Amniocentesis or chorionic villus sampling can sometimes determine if an unborn child has the condition.
Treatment
Treatment for NF1 includes removal of the neurofibromas for cosmetic purposes, treating the complications, and getting intervention for children with learning disabilities. Kids will be referred to appropriate medical specialists to monitor and treat complications, which may include:
seizures (up to 40% of children with NF1 have them) high blood pressure scoliosis speech impairment
optic nerve tumors (which can cause vision problems leading to blindness) early or delayed onset of puberty
Rarely, neurofibromas can become cancerous (3%-5% of cases). In these occurrences, surgery, chemotherapy, or radiation may be necessary. With NF2, surgeons will likely need to remove the auditory nerve tumors, which may cause deafness afterward. When parts of the auditory nerve are removed, hearing aids won't work. In 2000, the U.S. Food and Drug Administration (FDA) approved an auditory brainstem implant for people with NF2 who have lost their hearing. This device transmits sound signals directly to the brain, enabling the person to hear certain sounds and speech. Currently, researchers are conducting trials with medications in the hopes they'll be able to offer more treatment options.