Neurofibromatosis
Neurofibromatosis is a genetic disorder that causes tumors to grow on nerves throughout the body. Neurofibromatosis, or NF for short, affects one in every 2,000 births, which equates to about four million people worldwide. Though there is no cure yet, there is only one FDA-approved drug for NF. There are three types of NF; NF1, NF2, and Schwannomatosi Neurofibromatosis 1 is the most common form of NF, affecting 1 in every 2,500 births. NF1 is characterized by multiple café au lait (light brown) skin spots, neurofibromas (small benign growths) on or under the skin, freckling in the armpits or groin, softening and curving of bones and curvature of the spine (scoliosis), and the development of tumors in the brain, cranial nerves or spinal cord. These tumors are generally not cancerous, yet they still can cause health problems. Though some tumors may be benign, they may become malignant, or cancerous.
Neurofibromatosis 2-Schwannomatosis affects 1 in every 25,000 people and is characterized by the development of benign tumors called vestibular schwannomas. Vestibular schwannomas are tumors that are on the eighth cranial nerve, a nerve that carries sound and balance information from the inner ear to the brain. These schwannomas affect both ears and lead to partial or complete deafness. NF2-SWN may also develop other types of benign brain or spinal tumors and can cause development of cataracts. Symptoms of NF2-SWN usually develop during late teen and early adult years.
Finally, the least common and most recently identified form of NF is called Schwannomatosis. An umbrella term for several genetic conditions that cause the development of benign tumors to grow on nerves, SWN affects one in every 20,000 people. Excluding NF2-SWN, other types of SWN affect one in every 70,000 individuals. SWN is a type of NF in which individuals develop tumors called schwannomas on nerves in the central nervous system (brain and spine) and on peripheral nerves, which are nerves found throughout the body. Though schwannomas are benign and not cancerous, they can cause hearing loss, eye problems, and unmanageable pain. There are at least three genes that are known to cause SWN; NF2, LZTR1, and SMARCB1. These genes help regulate cell growth and division, and if not functioning properly, the cells may multiply excessively and form tumors.
Neurofibromatosis. (n.d.). Children's Tumor Foundation. Retrieved May 2, 2024, from https://www.ctf.org/
