What Is Neurofibromatosis?
Neurofibromatosis (NF) is a group of genetic disorders that cause tumors to develop along nerves throughout the body. Most of these tumors are benign (noncancerous), but some can cause significant health problems depending on their size, location, and growth pattern. Neurofibromatosis can affect the skin, brain, spinal cord, peripheral nerves, eyes, bones, and other organs.
There are three main types of neurofibromatosis:
Neurofibromatosis Type 1 (NF1)
NF1 is the most common form of neurofibromatosis. It typically appears during childhood and is characterized by skin changes, such as café-au-lait spots, freckling in the armpits or groin, and the development of neurofibromas (tumors that grow on nerves).
Neurofibromatosis Type 2 (NF2)
NF2 is less common and is often associated with tumors that develop on the nerves responsible for hearing and balance. These tumors, called vestibular schwannomas, can lead to hearing loss and balance problems.
Schwannomatosis
Schwannomatosis is the rarest form of neurofibromatosis. It causes multiple schwannomas, tumors that develop on peripheral nerves throughout the body. Chronic pain is often the primary symptom.
Many people with neurofibromatosis lead active, productive lives. However, because symptoms and complications can vary widely, ongoing medical monitoring is important.
Risk Factors
Several factors may increase the likelihood of developing neurofibromatosis:
Family History
Neurofibromatosis is a genetic condition that can be inherited from a parent. A family history of NF significantly increases the risk of developing the disorder.
Spontaneous Genetic Mutations
Up to half of NF cases occur in people with no family history of the condition. In these cases, the disorder results from a new genetic mutation that occurs before birth.
Genetic Variants
Mutations in specific genes are associated with each type of neurofibromatosis:
- NF1 gene mutations cause Neurofibromatosis Type 1
- NF2 gene mutations cause Neurofibromatosis Type 2
- SMARCB1 and LZTR1 gene mutations are linked to schwannomatosis
Although these risk factors increase the likelihood of developing neurofibromatosis, the severity and progression of the condition can vary significantly from person to person.