Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is a progressive disorder, which means most symptoms will worsen over time. In general, most people with NF1 will develop mild to moderate symptoms, and have a normal life expectancy.

The condition is caused by mutation of gene that could result in overactive cell growth, learning impairments, and skeletal defects. Clinical manifestations of neurofibromatosis type 1 may vary greatly in range and severity from case to case, Some findings are as follows:
· flat patches on the skin that are darker than the surrounding area. These spots increase in size and number as the individual grows older.
· noncancerous (benign) tumors, named neurofibromas that are usually located on or just under the skin. These tumors may also occur in nerves near the spinal cord or along nerves elsewhere in the body. Some (3-5%) develop cancerous tumors that grow along nerves, and/or develop other cancers, including brain tumors and cancer of blood-forming tissue (leukemia).
· episodes of seizures, learning disabilities (50% of children with the condition), speech difficulties, attention deficit hyperactive disorders, and skeletal malformations, including progressive curvature of the spine (scoliosis), and bowing of the lower legs.
· high blood pressure

Treatments for the condition are aimed at controlling or relieving symptoms. Headache and seizures are treated with medications. Benign tumours may be removed surgically. Cancerous tumours may be treated with surgery, chemotherapy, and/or radiotherapy.