NEUROFIBROMATOSIS TYPE 1
What Is Neurofibromatosis Type 1?
Neurofibromatosis (NF) is a genetic disorder that primarily affects growth of nerve cell tissue. It causes nerve tumors and skin and bone changes. Two types occur, type 1 (NF1) and type 2 (NF2). NF1 is also called von Recklinghausen’s disease. NF1 isn’t common, occurring in 1 of every 4000 people. It affects men and women equally and has been related to tumors of the brain, eye, and spinal cord and certain types of leukemia. There is no cure for it yet.
What Causes NF1?
NF1 is inherited, but more than half of people have no family history of NF1. It happens because of genetic mutations on chromosome 17. Each child born to a parent with NF1 has a 50% chance of getting it.
What Are the Symptoms of NF1?
Symptoms include small brown patches (café-au-lait spots), mostly on the chest, back, and tummy. Present from birth, they vary in size.
Several types of growths develop in and under the skin. They often appear in late childhood or early adolescence. They also vary from smaller than 1 inch to many inches. Larger ones can be disfiguring.
Other symptoms are freckling in body parts that normally don’t get sun (such as armpits and groin), learning problems (e.g., learning disabilities and low IQ, in about half of children), curved spine, bones that break easily, and high blood pressure. Growths in different places in the body cause symptoms.
Growths inside the head or on the spine can lead to seizures, loss of vision, and leg weakness (paralysis).
How Is NF1 Diagnosed?
The health care provider will ask about family medical history and will do physical and eye examinations. Electroencephalography (EEG), which records brain waves, is done for seizures. Children have their IQ tested.
A biopsy is done if cancer is possible. In a biopsy, a sample of the growth is removed and studied.
How Is NF1 Treated?
No general treatment is available, but specific treatments may control symptoms. The health care provider will watch for and treat complications. Children with learning disabilities need special schooling. Physical and occupational therapy can help. Physical therapy benefits people with a curved spine and broken bones. Occupational therapy teaches people how to manage normal activities.
Surgery can help with bone abnormalities. Scoliosis may need surgery plus back braces. Painful or disfiguring tumors can be removed but may grow back. For rare cancerous tumors, surgery, radiation, or chemotherapy (anticancer drugs) can be used.
DOs and DON’Ts in Managing NF1:
- DO find doctors and hospitals that have experience with NF1.
- DO realize that NF1 diagnosis before birth is possible with methods called amniocentesis and chorionic villus sampling.
- DO call your health care provider if you see café-au-lait spots or freckles in your groin or armpit.
- DO call your health care provider if you have new nervous system problems (hearing loss, muscle weakness, or difficulty with walking or balance).
- DON’T be afraid to ask for a second opinion.
- DON’T forget that NF1 is rare and will need a team approach for management.
Contact the following sources:
- Neurofibromatosis, Inc.
Tel: (800) 942-6825
- National Neurofibromatosis Foundation, Inc.
Tel: (800) 323-7938