Neurofibromatosis type 1 NF1 is a genetic condition that causes changes in skin pigment and tumors on nerve tissue. Skin changes include flat, light brown spots and freckles in the armpits and groin. Tumors can grow anywhere in the nervous system, including the brain, spinal cord and nerves. NF1 is rare. About 1 in 2, is affected by NF1. The tumors often are not cancerous, known as benign tumors. But sometimes they can become cancerous. Symptoms often are mild.
But complications can occur and may include trouble with learning, heart and blood vessel conditions, vision loss, and pain. Treatment focuses on supporting healthy growth and development in children and early management of complications. If NF1 causes large tumors or tumors that press on a nerve, surgery can reduce symptoms. A newer medicine is available to treat tumors in children, and other new treatments are being developed. Neurofibromatosis type 1 NF1 usually is diagnosed during childhood.
Symptoms are seen at birth or shortly afterward and almost always by age Symptoms tend to be mild to moderate, but they can vary from person to person. See a healthcare professional if your child has symptoms of neurofibromatosis type 1.
The tumors are often not cancerous and are slow growing, but complications can be managed. If your child has a plexiform neurofibroma, a medicine is available to treat it. Neurofibromatosis type 1 is caused by an altered gene that either is passed down by a parent or occurs at conception. The NF1 gene is located on chromosome This gene produces a protein called neurofibromin that helps regulate cell growth. When the gene is altered, it causes a loss of neurofibromin. This allows cells to grow without control.
In an autosomal dominant disorder, the changed gene is a dominant gene. It's located on one of the nonsex chromosomes, called autosomes. Only one changed gene is needed for someone to be affected by this type of condition.
