Neurofibromatosis

Also known as: NF, neurofibromatosis type 1 (NF1), von Recklinghausen disease, neurofibromatosis type 2 (NF2), schwannomatosis

What is neurofibromatosis?

Neurofibromatosis is a medical term that refers to a group of three unique but related disorders of the nervous system: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. It’s characterized by tumors (neurofibromas) that form on any nerve in the body. These tumors are usually non-cancerous, but can develop cancer in some cases.

What causes neurofibromatosis?

In half the patients, the disease appears to be a genetic disorder that’s passed down through families. However, some people develop the gene mutation that leads to the disease without inheriting it from their parents. Neurofibromatosis is frequently diagnosed in childhood or a little later.

What are the symptoms and signs of neurofibromatosis?

Depending on the type of neurofibromatosis, symptoms may often be mild, however depending on the nerves involved neurofibromas can cause:

• pain
• deafness
• blindness
• behavior problems
• difficulties in learning
• problems with the heart and blood vessels
• large head
• shortness of stature
• bone problems

Neurofibromatosis can appear on the skin in the form of small freckles in the groin or armpit, or as larger flat, brown spots (cafe au lait spots). Bumpy growths on the eyes and on and under the skin are often found.

What are neurofibromatosis care options?

Neurofibromatosis cannot be cured, but there are many medical and/or surgical treatments available to address most of the problems that occur.

Reviewed by: Aaron Berger, MD

This page was last updated on: January 14, 2020 09:50 AM