What is neurofibromatosis?
"Neuro" refers to the nervous system. The nervous system includes the brain, spinal cord, and nerves. A "fibroma" is a fleshy growth.
In neurofibromatosis, many small, fleshy growths of nerve tissue (called neurofibromas) form on or under the skin and in other parts of the body. There are several types of neurofibromatosis.
Neurofibromas on the skin may affect your child's appearance
Neurofibromas sometimes cause symptoms by putting pressure on nerves
Most neurofibromas aren't cancerous but some are
Doctors can see and feel neurofibromas on the skin
Doctors do CT or MRI of your child's brain and body to find other neurofibromas
There's no cure, but doctors sometimes do surgery or use lasers to remove some of the neurofibromas
Doctors use chemotherapy for neurofibromas that are cancerous
What causes neurofibromatosis?
Neurofibromatosis is caused by an abnormal gene Genes and Chromosomes Your genes are the chemical codes that control everything about how your body works, how it's made, and what it looks like. People have over 20,000 different genes. Every cell in your body has... read more . The different types of neurofibromatosis are caused by different abnormal genes. Sometimes, a baby inherits the abnormal gene from a parent. Other times, the baby is the first person in the family to have the abnormal gene.
What are the symptoms of neurofibromatosis?
Symptoms depend on where the neurofibromas are.
Skin spots like large freckles that are the color of milky coffee ("cafe-au-lait" spots)
Small lumps or bumps on the skin (some people have a few but others have thousands)
Nerve or spinal cord symptoms:
Nerve symptoms occur when the growths put pressure on nerves in the arms or legs.
Jerky and unsteady movements
Ringing in the ears
Rarely, the growths can cause structural problems in the skull and spine and rib, arm, and leg bones. If the bone surrounding the eyeball is affected, the eyes can bulge.
How do doctors know if my child has neurofibromatosis?
Most people don't notice anything wrong with their child. Instead, the doctor notices café-au-lait spots or lumps under the child's skin during a routine exam. They may ask you if other family members have had similar symptoms.
Your child's doctor will exam the growths and spots. Doctors may do CT or MRI scans (tests showing detailed pictures of the inside of your body) to check for growths in and around your child's brain and spinal cord.
How do doctors treat neurofibromatosis?
There's no cure for neurofibromatosis.
Growths can be removed with surgery or laser treatments, but they may grow back. Doctors use chemotherapy for cancerous growths.
How can I prevent neurofibromatosis?
If you have neurofibromatosis in your family and you're planning on having children, you can get genetic tests. These tests can tell you if you carry the gene Genes and Chromosomes Your genes are the chemical codes that control everything about how your body works, how it's made, and what it looks like. People have over 20,000 different genes. Every cell in your body has... read more . If so, genetic counseling can help you see your chances of passing (or not passing) the gene on to your children.
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