What is Neurofibromatosis?

Neurofibromatosis (NF) is a genetic disorder. It causes tumours to grow in the nervous system. These tumours sometimes can become malignant. According to the Neurofibromatosis Clinics Association, it is estimated to have more than 2 million people suffering from NF worldwide. It can be inherited from a patient’s mother or father, or gained from a spontaneous mutation in a germ cell. There is a 50% chance for NF patients to pass on the disease to their offspring. Although NF affects individuals in the same family, the disease phenotype may differ.

Types of Neurofibromatosis

Neurofibromatosis type 1 (NF1) affects one in every 3,000 people. Signs of NF1 usually start in childhood. Symptoms can include growing six or more light brown birthmarks (cafe-au-lait spots) on the skin and developing soft bumps (neurofibroma) under the skin or even inside the body. Skeletal abnormalities, learning disabilities, larger-than-average-head-size, and tumours on optic nerves that cause poor vision can also be the symptoms of NF1.
Neurofibromatosis type 2 (NF2) is much rarer than NF1. It affects one in every 25,000 people. Signs of NF2 usually start in early adulthood. Tumours (known as acoustic neuromas) caused by NF2 are usually slowly growing in the ears on the nerves that connect the inner ears and the brain. They can cause hearing loss and poor balance.

Neurofibromatosis Clinics Association. Facts & Statistics.