What is neurofibromatosis?
Neurofibromatosis is a genetic disorder that causes tumors to form on nerves throughout the body. It can also effect the development of bones and skin, resulting in disfigurement. There are different levels of severity and pain. Learning
disabilities and even blindness and deafness can result from neurofibromatosis, as well.
Neurofibromatosis (NF) is a term applied to two important autosomal dominant human disorders that involve the disordered growth of cells of neural crest origin. The hallmark of the disease is the formation of neurofibromas, tumors which arise from any of the nerve types of the body. These tumors can occur anywhere in the body, including within any of the bones. It may be associated with varying degrees of mental retardation, which is related to the underlying disease and not the tumors. The tumors are almost all benign, but may degenerate into malignancies later in life.
Neurofibromatosis causes tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual's genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. This disease has an extraordinary variability in its manifestation. A variety of different types of tumors can arise in the skin, nervous system, or in the bones, with a multitude of possible complications. The ususal course of the disease is the appearance in infancy of multiple cafe-au-lait spots. Characteristic skin manifestations appear during childhood or around puberty. These are cafe-au-lait spots or pigmented nevi (common moles). Eventually the adult individual may exhibit the characteristic multiple pendulous masses of skin and fibrous tissue most people associate with the disease. |
