What is NF?

Neurofibromatosis type 1 (NF1): The most common form of NF, NF1 affects approximately 1 in 2,500 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.

Schwannomatosis (SWN): SWN is the least common form of NF and occurs in roughly 1 in 70,000 people. Symptoms of SWN include benign tumors in many areas of the body (other than the hearing/balance nerves). These tumors often cause pain.

Subtypes:

• NF2-related schwannomatosis
• SMARCB1-related schwannomatosis
• LZTR1-related schwannomatosis
• 22q-related schwannomatosis
• Schwannomatosis NOS or NEC
  (used when there is no genetic information)

NF2-related schwannomatosis (NF2-SWN): NF2-SWN occurs in about 1 in 25,000 people. Findings 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-SWN may have visual issues (cataracts or other eye anomalies) and develop neurologic or functional issues related to different types of tumors in the brain and/or spinal cord.

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.