Types of Neurofibromatosis

NF has three genetically distinct forms: NF-1, NF-2 and Schwannomatosis, which are caused by different genes and chromosomes. The effects of NF are unpredictable and have varying manifestations and degrees of severity. There is no known cure for any form of NF, although the affected genes for all three types have been identified..

NF Type 1

Neurofibromatosis Type 1 (NF1) is a genetic disorder characterized by the development of multiple benign (non-cancerous) tumors along the nerves and on the skin (neurofibromas), as well as areas of abnormal skin color, commonly called café au last spots. NF1 is the most common type of neurofibromatosis, affecting 1 in 3,000 people worldwide, and is usually diagnosed at birth or early childhood.

NF Type 2

Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition which may be inherited or may arise spontaneously. The main manifestation of the condition is the development of symmetric, benign brain tumors in the region of the cranial nerve VIII, which is the “auditory-vestibular nerve” that transmits sensory information from the inner ear to the brain. Many people with this condition also experience visual problems. NF II is caused by mutations of the “Merlin” gene,[1] which seems to influence the form and movement of cells. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions. Historically the underlying disorder has not had any therapy due to the cell function caused by the genetic mutation. However, new drug research and some clinical trials have shown some promise in having beneficial effects. Collaborative research to find better treatments is ongoing, such as the work of the Synodos NF-2 Consortium of scientists.


Schwannomatosis (also known as NF Type 3/NF3) is the rarest type of neurofibromatosis and has only recently been recognized. Similar to NF2, Schwannomatosis is characterized by benign tumors (schwannomas) and other neurological complications, excluding hallmark signs of NF. It affects roughly 1 in 40,000 people.

Although benign, schwannomas can become detrimental when the growing tumor compresses the nerve, causing chronic pain. Treatment options for schwannomas are surgery, radiation, cyberknife or Intracapsular Enucleation.

NF1 is also known as von Recklinghausen disease,
named after the pathologist credited with its discovery.

National Institutes of Health