Neurofibromatosis
Alternate Names : NF1, NF2, VonRecklinghausen's Disease, Phakomatosis, Neurocutaneous Disorder, Peripheral Neurofibromatosis, Bilateral Acoustic Neurofibromatosis, BAN
This condition 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 type
NF2, which is a less common, but often more severe form
Contrary to common belief, NF is not the same as Elephant Man Disease.
What is going on in the body?
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. But the other half of the cases arise spontaneously. NF1 and
NF2 are 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.
What are the causes and risks of the disease?
A parent who has this disorder has a 50-50 chance of passing the same form of NF on to
each of his or her children. But another 50% of cases develop on their own. It is not known why. People of
all sexes and races have an equal chance of having NF. NF1 affects about 1 out of every 4000 births
worldwide. NF2 is more rare, affecting only about 1 in 40,000 births worldwide. NF1 and NF2 together
affect more than 100,000 people in the US.
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