Neurofibromatosis, or von Recklinghausen's disease, is an inherited disorder affecting the bones, nervous system and glands. About half of those afflicted with the disorder will have a family history of the disease, the others will not. Typically, there are tumors which occur in the skin, nervous system and bones. Alteration of the skin color and pigmentation occurs. At times the disorder primarily affects the nervous system, while at other times the skin, bones and nerves of the skin are principally involved.
Causes of Neurofibromatosis
Neurofibromatosis is a genetic disorder. In this disorder, there is a proliferation of the cells derived from the embryonic tissue referred to as the neural crest cells.
Signs and Symptoms of Neurofibromatosis
Most people demonstrate some alteration in skin color and pigmentation. There may be localized areas of increased pigmentation or changes in skin texture. Tumors frequently affect the skin, often by producing tumors of the nerves directly underneath. The symptoms may increase rapidly during puberty and during pregnancy. disfigurement of any portion of the body may occur. Unexpected fractures may herald involvement of specific bones. Hearing loss and visual loss can be a manifestation of tumors affecting the nerves serving these functions. Numbness or weakness may be a sign of tumors of the spinal cord. These can occur both outside of the spinal cord as well as within the spinal cord.
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Medical Content Last Updated on 07/12/2008
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