What is Neurofibromatosis Disorder?

Neurfibromatosis Disorder (NF1, NF2 and Schwannomatosis) is a set of three distinct genetic disorders and NF affects 1:3000 births. Individuals with NF1 are prone to the development of benign tumors that grow on the nerves anywhere on or in the body. NF1 can also affect other tissues, including the bones, skin, blood vessels, and eyes. In addition, nearly 50% of all people with NF1 have learning disabilities. Individuals with NF2 are prone to the development of different benign tumors that grow on the nerves anywhere on or in the body (schwannomas) as well as other nervous system tumors. In addition, NF2 commonly affects hearing, vision and balance.

Individuals with Schwannomatosis are prone to the development of benign tumors that grow on nerves anywhere on or in the body (schwannomas), and tend to experience severe, sometimes debilitating pain.

Children's Tumor Foundation.

Our son, Duane Ray and grandson, Christopher Ray, have Neurofibromatosis Disorder. When we learned about Duane's disorder, he was two years old. I knew some day; that I would be raising awareness and funds for research to aid in ending Neurofibromatosis. Please join me and many others to end the NF puzzel.

Marette Nagel

Symptoms

By Mayo Clinic staff

Three distinct types of neurofibromatosis exist, each with different signs and symptoms.

Neurofibromatosis 1 (NF1)
NF1 typically appears in childhood. Signs and symptoms include:

•               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. But if you have more than six of them, it's a strong indication of NF1. With NF1, cafe au lait spots usually are present at birth or appear during the first year of life. Their number tends to increase during early childhood and then stabilize. They aren't serious but can sometimes be a cosmetic concern.

•               Freckling in the armpits or groin area. This sign usually appears by 4 to 5 years of age.

•               Soft bumps on or under the skin (neurofibromas). These are benign tumors that grow on nerve tissue close to your skin. Sometimes, a growth will involve multiple nerves (plexiform neurofibroma).

•               Tiny bumps on the iris of your eye (Lisch nodules). It's hard to see these harmless lesions just by looking at them, but your doctor can detect them with 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 intelligence (cognition) is common in children with NF1, but is usually mild. Most children are in the average or low-average range. Often, children with NF1 have a specific learning disability, such as problems with visual-spatial skills or attention-deficit/hyperactivity disorder (ADHD).

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

•               Short stature. Short stature is another characteristic occasionally seen in children with NF1.

Neurofibromatosis 2 (NF2). 
NF2 is much less common than NF1. Signs and symptoms of NF2 usually result from the development of vestibular schwannomas (also known as acoustic neuromas) in both ears. These benign tumors grow on the nerve that carries sound and balance information from the inner ear to the brain (the eighth cranial nerve). Resulting signs and symptoms typically appear in the late teen and early adult years, and include:

•               Gradual hearing loss

•               Ringing in the ears

•               Poor balance

In some cases, NF2 can lead to growths in other nerves of the body, including the cranial, spinal, visual (optic) and peripheral nerves. Associated signs and symptoms may include:

•               Cataracts

•               Numbness and weakness in the arms or legs

Schwannomatosis.
 Schwannomatosis is a rare form of neurofibromatosis only recently recognized. It mostly seems to affect people in their 20s and 30s. Schwannomatosis causes tumors called schwannomas to develop on cranial, spinal and peripheral nerves, but not on the nerve that carries sound and balance information from the inner ear to the brain (the eighth cranial nerve), so it doesn't cause hearing loss, making it different from NF2. As with NF2, though, schwannomatosis doesn't cause cognitive impairment. The main symptom of schwannomatosis is:

•               Chronic pain, which can occur anywhere in the body

When to see a doctor
. If you notice signs or symptoms of neurofibromatosis in your child or yourself, call your doctor for an appointment or bring it up at your next visit. The tumors associated with neurofibromatosis are almost always benign and slow growing. So although it's important to obtain a timely diagnosis and monitor for complications, the situation isn't an emergency.