What is Neurofibromatosis
Neurofibromatosis (NF) is a highly variable disorder of the nervous system that affects almost every organ of the body and each person differently. It refers to three different genetic medical conditions: Neurofibromatosis type-1 (NF1), NF 2 – related Schwannomatosis (NF2-SWN), Schwannomatosis (SWN). Each involves the development of tumors that may affect the brain, spinal cord, and the nerves that send signals between them and all other parts of the body. Most tumors are non-cancerous (benign), although some may become cancerous (malignant). Currently there is no cure.
NF Type 1
NF1 Affects 1 in 2,500 births.
Symptoms of NF1 include:
Diagnoses 2 or more of the following symptoms
- Six or more café-au-lait spots (brown skin spots)
- Freckling in the underarm, abdomen, or groin area
- Tumors
- Two or more plexiform neurofibroma tumors
- Optic pathway glioma
- Two or more iris lisch nodules (lesions over the eye)
- Bone abnormalities
- Sphenoid dysplasia
- Anterolateral bowing
- Pseudarthrosis
NF 2 Related-Schwannomatosis
NF2-SWN Affects 1 in 25,000 births.
Diagnoses as 2 Major or 1 Major or 2 minor Symptoms
Major Criteria
- Bi-lateral vestibular schwannomas
- 2 different NF2 type of tumors
Minor Criteria
- Cataract
- Retinal Hamartoma
- Meningioma
Schwannomatosis
SWN Affects 1 in 40,000 births.
Symptoms of Schwannomatosis:
- Tumors, called schwannomas, on nerves in the central nervous system (brain and spine) and on peripheral nerves (resides outside the brain and spinal cord)
- Schwannomas are benign tumors that can cause hearing loss, eye problems or pain that may be hard to manage