WHAT IS NEUROFIBROMATOSIS?
Neurofibromatosis, also known as NF and formally known as von Recklinghausen’s Disease is a genetic disorder of the nervous system that results in the growth of noncancerous and cancerous tumors along nerves.
There are three types of Neurofibromatosis (NF1, NF2, and Schwannomatosis), each with distinctive symptoms. The NF1 gene is located on chromosome 17 and affects one in 2,500 individuals. The NF2 gene is located on chromosome 22 and affects one in 25,000. Additional complications include hearing and vision loss, bone deformities, cancer, disfigurement, and learning delays – as well as many other challenges. NF is worldwide in distribution and affects both sexes equally. It has no particular racial, geographic, or ethnic inclination. An individual with NF has a 50% chance of passing on to his or her children. Therefore, anyone's child or grandchild can be born with NF. Despite its frequency, NF is still unknown to most people.
Joseph Merrick, whose condition was depicted in the play and film, The Elephant Man, is often incorrectly thought to have had neurofibromatosis. Merrick's condition has been identified as Proteus Syndrome, a disorder similar to NF, but unrelated. To learn more about Proteus Syndrome, please visit the Proteus Syndrome Foundation's website
NFC's Life with NF video
What are the Diagnostic Criteria for NF1 and NF2?
Diagnostic Criteria for NF1
One needs two or more of the following:
- Six or more café-au-lait spots 1.5 cm or larger in post-pubertal individuals, 0.5 cm or larger in pre-pubertal individuals
- Two or more neurofibromas of any type or one or more plexiform neurofibroma
- Freckling in the axilla or groin
- Optic glioma (tumor of the optic pathway)
- Two or more Lisch nodules (benign iris hamartomas).
- A distinctive bony lesion: dysplasia of the sphenoid bone or dysplasia or thinning of long bone cortex
- A first-degree relative with NF1
Diagnostic Criteria for NF2:
Confirmed (definite) NF2:
- Bilateral vestibular Schwannomas (VS)
Presumptive (probable) NF2:
- Family history of NF2 (first degree family relative) plus:
- Unilateral VS or any two of the following:
meningioma, glioma, schwannnoma, juvenile posterior subcapsular lenticular, opacities/juvenile cortical cataract