Neurofibromatosis is a genetic disorder that causes tumors (typically benign) to grow on nerves anywhere in the nervous system.
There are three distinct types of the condition: NF1, the most common kind, is usually mild and diagnosed in childhood; NF2 generally arises in the late teen/early adult years and can cause life-threatening damage to vital structures in the brain; Schwannomatosis, the rarest type, strikes people in their 20s and 30s with chronic pain, which in some cases can be severe and debilitating.
While most people with neurofibromatosis inherit the disorder, between 30 and 50 percent of new cases develop spontaneously as a result of a gene mutation. As there is no cure, treatment aims to control symptoms and manage complications.
- Light brown spots on the skin
- Soft bumps under or on the skin
- Growths on the iris of the eye
- Larger than normal head circumference
- Abnormal development of the spine or skull
- Short stature NF2:
- Hearing problems
- Poor balance
- Multiple cell growths throughout the body
- Chronic pain
- Numbness, tingling, weakness in the fingers and toes