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Neurofibromatosis is an autosomal dominant inherited disorder that affects about one in 3,000 individuals. The expression of the gene is variable, meaning that carriers of the disease may be more or less severely affected. Also, there is a high rate of mutation, which means that many new cases arise spontaneously in the embryo and are not inherited from the parents.
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.
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.
There is no definitive therapy for the disease. The tumors are so numerous that surgical removal of them all is impossible. Malignancy is watched for, and treated if it arises.
Further information is available at the Children's Tumor Foundation site.