Neurofibromatosis Type 1

Neurofibromatosis 1 (NF1) is also known as Von Recklinghausen NF and occurs in 1:3,000 births. NF1 is characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin as well as enlargement and/or deformation of bones and scoliosis of the spine.

Approximately 50% of people with NF1 have learning disabilities. The severity of each case can vary significantly, ranging from very mild to extremely severe – as such, it is very difficult to predict what lies ahead for each patient. Occasionally, tumors may form on the brain, cranial nerves or spinal cord. Fortunately, most tumors associated with NF1 are benign.

Signs of NF1 are often discernible from a very young age, with cafe-au-lait spots generally being visible at birth. Nearly 60% of those affected by NF1 have mild cases, so it is beneficial that there are lab tests available to confirm diagnosis.

Do I have NF1?

This is a question best answered by a physician knowledgeable about NF, however, as a general guide, doctors will look for two or more of the following criteria:

Possible Complications of NF1

For many people with NF1 (approximately 60%), the symptoms are mild and are mostly superficial. Another 20% will be faced with correctable problems, and the remaining 20% will see persistent complications. Most severe cases are evident by early adolescence and complications can include the following:

What to watch for

In children/adolescents with NF1, it’s important to monitor for:

In Adults, it’s important to monitor the following: