Neurofibromatosis, also known as NF, is a genetic disorder that causes tumors to grow on nerve pathways anywhere in the body. There are three types of neurofibromatoses – NF1, NF2, and Schwannomatosis. Neurofibromatosis type 1 is the most common single gene disorder in humans, occurring in about 30 to 40 in 100,000 births worldwide. It is more common than cystic fibrosis, Duchenne muscular dystrophy, and Huntington’s disease combined. Neurofibromatosis occurs in both sexes and in all races and ethnic groups and there is no known cure for NF.
NF can be inherited or can be the result of a spontaneous gene mutation. Roughly 50% of cases are passed down from parents and 50% are the result of spontaneous gene mutation. NF1 is usually diagnosed in childhood. It manifests very differently from person to person, including in biological siblings. At present, there is no way to predict who will develop which features of the disease and how severe those features will be.
The most common trait with NF1 are multiple café-au-lait (light brown) skin spots, freckling in the armpits or groin, and/or neurofibromas (small benign growths) on or under the skin. About 50% of people with NF1 also have learning challenges. Tumors may develop in the brain, on the spinal cord, and/or on nerves all throughout the body. While NF1 tumors are generally not cancerous, they may cause significant deformities and health issues such as blindness. Sometimes benign NF1 tumors do become malignant.
While research on NF has been historically underfunded, over the past few decades, there have been significant insights into better understanding the disease. Advances in new technologies such as gene therapy and mutation suppression give hope to the idea that it will be possible to find a cure for NF.