Neurofibromatoses

By Taylor Berryhill

Causes

The three forms of NF are caused by abnormalities in three different genes. The gene for NF1 is located on Chromosome 17. The genes for NF1 and schwannomatosis are located on chromosome 22. These genes are inherited

Symptoms

Some symptoms are:

Six or more tan spots on the skin

Freckles under the arms or under the groin

Two or more tumors under the skin

A tumor on the optic nerve

A different variety of bone defects

Treatment

There is no cure for this defect, but surgery may help. Tumors may be removed, as well as surgery on the ear drum of the ear will supposedly decrease symptoms. There is also a cancer drug that reduces symptoms. Some of these options have increased the risk of cancer.

Life expectancy

Type 1 NF may reduce life expectancy by up to 15 years, usually due to malignant tumors. Early diagnosis and treatment ( from surgery, radiation) may reduce mortality rates.

Facts

65% of NF patients have a disability.

Many of these patients have tumors on their face.

NF1 is very mild, mostly only the addition of freckles.

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