Neurofibromatosis

What is Neurofibromatosis??

Neurofibromatosis is a genetic disorder that disturbs cell growth in your nervous system, causing tumors to form on nerve tissue. 

These tumors may develop anywhere in your nervous system, including in your brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood.

The tumors are usually noncancerous (benign), but in some cases these tumors become cancerous (malignant) tumors. People with neurofibromatosis often experience only mild symptoms. 

Effects of neurofibromatosis can range from hearing loss, learning impairment, and heart and blood vessel (cardiovascular) complications to severe disability due to nerve compression by tumors, loss of vision and severe pain.

Neurofibromatosis treatment aims to maximize healthy growth and development and to manage complications as soon as they arise. When neurofibromatosis causes large tumors or tumors that press on a nerve, surgery may help ease symptoms. Some people may benefit from other therapies, such as stereotactic radiosurgery, medications to control pain or physical therapy.

Symptoms

Flat, light brown spots on the skin. 

These harmless spots, also called cafe au lait (ka-FAY oh LAY) spots, are common in many people. If you have more than six of them, it's a strong indication of NF1. In NF1, cafe au lait spots are usually present at birth or appear during the first years of life and then stabilize. They aren't serious but can sometimes be a cosmetic concern.

Freckling in the armpits or groin area. 

Freckling usually appears by age 4 or 5.

Soft bumps on or under the skin (neurofibromas).

 Neurofibromas are benign tumors that can be located anywhere in the body. Many people develop tumors in the skin or under the skin, but neurofibromas can also grow inside of the body. Sometimes, a growth will involve multiple nerves (plexiform neurofibroma).

Tiny bumps on the iris of your eye (Lisch nodules).

 Lisch nodules — harmless lesions in your eye — can't easily be seen just by looking at them, and they don't affect your vision. However, your doctor can detect these lesions using a special instrument.

Bone deformities. 

Abnormalities in the way bones grow and a deficiency in bone mineral density can cause bone deformities such as a curved spine (scoliosis) or bowed lower leg.

Learning disabilities.

 Impaired thinking skills (cognition) are common in children with NF1, but are usually mild. Children may have difficulty with language and visual-spatial skills. Children with NF1 often may have a specific learning disability, such as attention-deficit/hyperactivity disorder (ADHD).

Larger than average head size. 

Children with NF1 tend to have a larger than average head size and higher brain volume, but it's unknown whether this is related to cognitive impairment.

Short stature. 

Children with NF1 often have a short stature and are below average in height.

Causes

Neurofibromatosis is caused by genetic defects (mutations) that either are passed on by a parent or occur spontaneously at conception. Each form of neurofibromatosis is caused by mutations in different genes.

Treatment

Neurofibromatosis can't be cured, but doctors will monitor you for complications and treat your symptoms. A team of doctors trained in many areas in a neurofibromatosis clinic often may be involved in your care.

Monitoring

If you have a child with neurofibromatosis 1 (NF1), your doctor is likely to recommend yearly age-appropriate checkups to:

Assess your child's skin for new neurofibromas or changes in existing ones

Check your child's blood pressure for signs of high blood pressure

Evaluate your child's growth and development — including height, weight and head circumference — according to growth charts available for children with NF1

Check for signs of early puberty

Evaluate your child for any skeletal changes and abnormalities

Assess your child's learning development and progress in school

Obtain a complete eye examination of your child's eyes

Cancer treatment

Malignant tumors and other cancers associated with neurofibromatosis are treated with standard cancer therapies, such as surgery, chemotherapy and radiation therapy. However, early recognition of malignant tumors and early treatment are the most important factors resulting in good outcome.