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 and problems with the heart and blood vessels, a large head and shortness with 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[link to neurosurgery] available to address most of the problems that occur.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: 3/23/2018 1:57:16 PM


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From the Newsdesk

BWS Family Conference
07/20/2018 — This conference is designed to provide individuals with Beckwith-Wiedemann Syndrome (BWS) and their family’s up-to-date information about the possible aspects of BWS and their management.  
Nicklaus Children's Hospital to offer new rapid genetic test
05/03/2018 — Nicklaus Children's Hospital will be one of a handful in the country to offer a fast turn-around on genome sequencing that can be a key to saving infants with rare and hard-to-diagnose genetic disorders. As seen on The Miami Herald.