neurofibromatosis essays

neurofibromatosis essays Neurofibromatosis 1 and 2 are both autosomal dominant genetic disorders, meaning that one only needs to be born with one abnormal gene to have the condition, and are also both transmitted the same way. The gene responsible for Neurofibromatosis (NF) can either be inherited from a parent, or can occur at random in an individual with no family history of NF due to a spontaneous mutation. Once an individual has the NF gene, there is a 50% chance that said gene will be passed onto a child, due to the genes dominant nature. It is equally possible that a child of a parent with NF will be completely free of the disorder. There are extreme variations witnessed in affected individuals even within the same family. The same NF gene present in different family members can result in varying severity of NF symptoms. For example, a parent suffering from severe NF can have a child with very mild NF. Presently, there is no way to predict the specific symptoms or severity a person affected by NF will develop. The most common form of NF is NF1 (Also known as Von Recklinghausen disease or peripheral NF) occurring in 1:4 000 births. NF1 is usually diagnosed by freckling in the armpit or groin areas, optic glioma (a tumor on the optic nerve), severe scoliosis (curvature of the spine), enlargement of certain bones, caf-au-lait macules (flat coffee-colored patches on the skin), lison nodules (small pigmented lumps in the iris), and neurofibromas (small swellings arising from the fibrous outer lining of nerves) which are often unsightly and surgically removed. Neurofibromas may undergo malignant change to become cancerous, producing neurofibrosarcomas. Most cases of NF1 are mild to moderates, but some may be more severe. Severe NF1 symptoms can include disfigurement, blindness, deafness, skeletal abnormalities, tumors, and learning. Approximately 50% of people with ei ...