NF refers to a group of complex conditions that cause tumours to grow on nerves throughout the body.
NF includes neurofibromatosis type 1 (NF1) and all types of schwannomatosis (SWN), including NF2-related schwannomatosis (NF2), formerly known as neurofibromatosis type 2.
Whilst each condition is highly variable, there are common signs and symptoms for each type of NF.
types of NF
Neurofibromatosis Type 1 (NF1)
This is the most common type of NF and occurs in about 1 in every 2,500 births. NF1 is typically characterised by six or more café-au-lait (light brown) marks and neurofibromas (small benign tumours) on or under the skin.
Learn more about NF1
Schwannomatosis is an umbrella term for a group of rare genetic conditions, including NF2-related schwannomatosis (NF2). As the name implies, the most common tumours are called schwannomas, which most often involve the spinal and peripheral nerves. These tumors develop when Schwann cells, (part of the covering, called the nerve sheath, that insulates nerves), grow abnormally.
Sub-types of schwannomatosis are named according to the genetic information used for diagnosis, with gene names in italics:
- NF2-related schwannomatosis (formerly neurofibromatosis type 2)
- SMARCB1-related schwannomatosis
- LZTR1-related schwannomatosis
- 22q-related schwannomatosis
- Schwannomatosis NOS (not otherwise specified) or NEC (not elsewhere classified)
Learn more about SWN
LEARN MORE ABOUT NF2-SWN
Along with the three main types of NF there are conditions which exhibit features seen in these three conditions, which can at times make diagnosis tricky. We believe it is important that we address these as well.