What is Neurofibromatosis?

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NF Disease Information

Neurofibromatosis (NF) is a genetic disorder that affects how nerve cells form and grow. NF can affect the brain, spinal cord, skin, nerves, bones, eyes, ears and nearby organs or body parts. The disease causes neurofibromas, or tumors, to grow along the nerves on or under the skin. The growths derive from primitive cells in the body and can occur anywhere. Most skin lesions are flat and pigmented (café au lait colored), but may some are raised, flesh-colored bumps.

Some patients have barely noticeable symptoms, and others are profoundly affected by the disease. Depending on the type of NF, signs and symptoms may be present at birth, develop during childhood or adolescence or appear in adult patients in their early 30s or older. The medical disease name “neurofibromatosis” further explains the condition in simple terms:

Neuro = Nerve or nervous system
Fibromata = Tumors comprised of fibrous tissue
Osis = Condition or disease

The Three Main Types of Neurofibromatosis

The disorder is classified into three main types (there are other rare or similar disease types.) Doctors diagnose the different neurofibromatosis types based on symptoms, age of onset and genetic or other testing. Here are the names of the three main types of NF:

• Neurofibromatosis type 1 (NF 1) – most common form of NF
• Neurofibromatosis type 2 (NF 2) – less common form of NF
• Schwannomatosis – rarest form of NF

What Causes Neurofibromatosis?

Neurofibromatosis can be an inherited genetic disorder or the result of a spontaneous gene mutation that arises in the sperm or egg of either parent or in patients themselves during their lifetime. If a parent has NF, children have a 50% chance of inheriting the gene that causes NF. Neurofibromatosis is just one of many diseases and disorders that can be passed on to a child through either parent.

A significant risk factor for neurofibromatosis is having a family history of the disease. Sometimes, patients get NF without having any family history of it. These case are most likely due to a gene mutation. This mutation can then be passed on genetically. Schwannomatosis inheritance is less clear to researchers, and only 15% of those cases are inherited. It is interesting to note that family members with the same form of neurofibromatosis may have very different symptoms from each other.

Is There a Neurofibromatosis Cure?

There is currently no cure for neurofibromatosis. Instead, treatment focuses on easing the symptoms and reducing the damage (physical, neurological and emotional) that growths may cause. Dr. Weinberg is a neurofibromatosis skin expert. He pioneered the electrodesiccation method to treat skin surface neurofibromas. This fast and nearly painless treatment can eliminate large clusters of neurofibromas without traditional surgery. Electrodesiccation involves applying a small electrical current to a growth, which dries out (desiccates) and shrinks the growth without the pain and scarring of traditional surgery.

More Neurofibromatosis Statistics

• NF 1 occurs in approximately 1 in 4,000 people
• NF 2 occurs in approximately 1 in 25,000 people
• Schwannomatosis occurs in 1 in 40,000 people
• NF1 and NF2 occur among all racial groups
• NF 1 and NF 2 affect both sexes equally

Research into neurofibromatosis is ongoing. There are many ways for patients and families to contribute to research studies, including supplying tissue samples, funding and sharing genetic information with research study scientists. In addition, working with a team of medical specialists will help you access the latest treatments and research findings for neurofibromatosis.

Please contact our office to schedule a consultation. We look forward to helping you.