Neurofibromatosis

NF1

Basic Information

Neurofibromatosis 1 can't kill a person but they are stuck with it for the rest of there lives.People can get neurofibromatosis when they are born. Neurofibromatosis affects chromosome 17.The gene that is mutated has no name but it can suppress cell growth.

Causes

Neurofibromatosis 1 (NF1)
There is a mutation to the NF1 gene located on chromosome 17. This gene produces a protein called neurofibromin, which helps regulate cell growth. Because of the mutation, there is a loss of neurofibromin, which allows cells to grow uncontrolled.


Treatment

Surgery to remove the tumors.

Chemotherapy to reduce the size and number of tumors.

Radiation may also be used to reduce the size and number of tumors.


Other Facts

People with neurofibromatosis have bigger heads then normal.It is the buildup of fluid in the head. The fluid is what makes people have a disorder when they have neurofibromatosis.

characteristics

Presence of light brown spots.

Clumps of pigment in the iris of the eyes.

Tumors the optic nerve of the eyes.

Severe curvature of the spine.

A person can live a happy and normal life with neurofibromatosis 1.

They can have a very long and normal life expectancy.

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