Your Guide to Neurofibromatosis: What It Is, How It Starts, How to Cure It

Neurofibromatosis (NF) is a term that refers to a complex set of separate genetic disorders known as neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis.

This complex disorder causes tumors to form on nerve tissue, from the spinal cord to the brain. The complications brought on by these tumors can significantly hinder the child’s quality of life. Caused by genetic mutations, there is no sure way of determining the child’s health before conception.

  • A mutated NF1 gene causes the loss of neurofibromin. This causes cells to grow in an uncontrolled state.
  • The NF2 gene creates merlin which represses tumor growth. But a mutated gene affects the production of merlin, causing uncontrolled cell growth.
  • Schwannomatosis occurs when the SMARCB1 and LZTR1 genes mutate.

NF can cause:

NF can cause:

Tumors anywhere in the body (particularly in the brain + spine)

Cardiovascular complications

Significant learning disorders

Hard-to-treat cancers

Musculoskeletal abnormalities

Hearing and vision loss

Chronic pain

And more

Types of Neurofibromatosis

Neurofibromatosis type 1 (NF1): The most common form of neurofibromatosis, NF1 affects approximately 1 in 3,000 people. Symptoms of NF1 include brown skin spots (café-au-lait spots), tumors (neurofibromas), eye findings (Lisch nodules or optic pathway gliomas), bone abnormalities and learning issues.

Neurofibromatosis type 2 (NF2): NF2 occurs in about 1 in 25,000 people. Findings of NF2 include tumors along the hearing/balance nerve (vestibular schwannoma, sometimes referred to as acoustic neuroma) typically leading to hearing loss or deafness and balance problems. In addition, individuals with NF2 may have visual issues (cataracts or other eye anomaly) and develop neurologic or functional issues related to different types of tumors in the brain and/or spinal cord.

Schwannomatosis: Schwannomatosis is the least common of the neurofibromatoses and occurs in roughly 1 in 40,000 people. Symptoms of schwannomatosis include benign tumors in many areas of the body (other than the hearing/balance nerves). These tumors often cause pain.

Although symptoms of NF are variable and may not be severe, care for individuals with NF is often complex and requires healthcare providers with NF knowledge and experience. Various types of doctors are often required to care for individuals with NF including specialists in neurology, genetics, surgery, ophthalmology, audiology and more.

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