Isis Hernandez


by genetic defects (mutations) that either are passed on by a parent or occur spontaneously at conception. Each form of neurofibromatosis is caused by mutations in different genes.


  • Flat, light brown spots on the skin-If you have more than six of them, it's a strong indication of NF1.
  • Freckling in the armpits or groin area-Freckling usually appears by age 4 or 5
  • Bone deformities-Abnormalities in the way bones grow and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or bowed lower leg.


Surgery also may be performed to remove schwannomas and nerve tissue tumors (neurofibromas) that cause pain, sensory loss, and loss of function. In Type 2 neurofibromatosis, surgery using magnification and very small instruments (microsurgery) may be performed to remove tumors of the vestibulocochlear nerve.

Life Expectancy

These tumors may be seen as bumps under the skin (when the nerves involved are just under the skin surface) or can also be seen on the skin surface as small (less than 1 inch), dark, rough areas of hairy skin. In children, tumors may be smoother, less pigmented, and less hairy.

Important facts

·NF has been classified into three distinct types; NF1, NF2 and schwannomatosis. They are caused by different genes, located on different chromosomes.

·NF1 is the most common neurological disorder caused by a single gene; occurring in one in every 3,000 children born.

·NF2 is a rarer type, occurring in 1:25,000 people worldwide.