Neurofibromatosis is a disease where small tumors form in the brain. The image above is an xray of a tumor in the brain. Neurofibromatosis is caused by the deletion or mutation in the NF1 gene. NF has been mapped on chromosome 17.

Pictured above, Chandra Wisnu, also known as 'The Bubble Man' due to the tumors on his skin that give off the appearance of bubbles under his skin. Wisnu was diagnosed with Neurofibromatosis in 2015.

Neurofibramatosis 1

NF1 is:

• Ten times more common than NF2 (Neurofibromatosis 2)
• Characterized by patches of darker or more tanned skin
• Usually able to be visually distinguished as small bubble like neurofibromas grow on, or under the skin.
• Most NF patients are treated with nearly the same treatment you would get if you had cancer.
• Patients are usually diagnose when they have 6 or more brown patches on the skin, neurofibromas, etc.
• Nearly 50% of people with NF have a learning disability.
• Scoliosis is also prevalent in people with NF.

Neurofibramatosis 2

NF2 is:

• Characterized by tumors on on cranial and spinal nerves.
• Fewer than 200,000 cases per year, making it rare
• Half of people who get NF1 or NF2 inherit it from a parent, the other half get it from a genetic mutation.

Citations

http://www.aboutkidshealth.ca/En/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/Neurofibromatosis-Type-1-NF1-How-is-it-Diagnosed.aspx

http://www.aboutkidshealth.ca/En/HealthAZ/ConditionsandDiseases/GeneticDisorders/Pages/Neurofibromatosis-Type-1-NF1-How-is-it-Diagnosed.aspx