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.
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.
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.