Neurofibromatosis

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. Some types are diagnosed in babies and children and others are more commonly diagnosed in adults.

• Neurofibromas on the skin may affect 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 (computed tomography) or MRI (magnetic resonance imaging) of the 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

Neurofibromatosis is caused by an abnormal gene. 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.

Symptoms depend on where the neurofibromas are.

Skin symptoms:

• 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 other people have thousands)

Nerve or spinal cord symptoms:

• Tingling

• Pain

• Muscle weakness

Nerve symptoms can occur when the growths put pressure on nerves in the arms or legs.

Brain symptoms:

• Blindness

• Dizziness

• Weakness

• Jerky and unsteady movements

• Hearing loss

• Ringing in the ears

• Headache

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.

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.

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.

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. If so, genetic counseling can help you understand your chances of passing (or not passing) the gene on to your children.