Neurofibromatosis is a genetic disorder that affects the growth and development of nerve cells. It is characterized by the formation of tumors, called neurofibromas, that can develop on or under the skin, as well as in other parts of the body. These tumors are usually non-cancerous, but in some cases, they can become malignant.
There are three types of neurofibromatosis: NF1, NF2, and schwannomatosis. NF1 is the most common type, and it often manifests during childhood. It can cause various symptoms, including skin changes, bone deformities, learning disabilities, and vision problems. NF2 primarily affects the nerves responsible for hearing and balance, leading to hearing loss, ringing in the ears, and difficulties with balance. Schwannomatosis is the rarest form and is characterized by the development of schwannomas, which are tumors that grow on the nerves.
Neurofibromatosis is caused by mutations in specific genes that regulate cell growth. It is usually inherited from a parent, but in some cases, it can occur spontaneously. While there is no cure for neurofibromatosis, treatment focuses on managing symptoms and complications. Regular monitoring and medical care are essential to address any potential issues and improve the quality of life for individuals with this condition.