neurofibromatosis

neurofibromatosis - What is neurofibromatosis...

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What is neurofibromatosis - neurofibromatosis is a genetic disorder of the nervous system that primarily affects the development and growth of neural tissue -these tumors are called neurofibromas. They grow along nerves in the body or under the skin they are so harmful because as these tumors increase in size, they press on neighboring nerves causing problems to those nerves and affecting the body at large these neurofibromas become cancerous in 5% of cases There are TWO types of neurofibromatosis -The first and more common type is referred to as NF1, also known as von Recklinghausen disease it occurs in one out of every 4,000 births and affects an estimated 100,000 Americans -The second and more rare type, NF2, is known as bilateral acoustic neurofibromatosis this kind is seen in one out of 50,000 births people with NF2 develop tumors on the nerves on their ears, causing hearing loss, eventual deafness and problems with balance What causes neurofibromatosis -BOTH types of neurofibromatosis are autosomal dominant genetic disorders, meaning a child has a 50% chance of inheriting the disease if either parent has NF. -the disease can also be a result of a mutation in the genetic material of the sperm or the egg at conception. about half of the cases are inherited, and the other half result from genetic mutation -there are two GENES involved in causing neurobfibromatosis. the NF1 gene is located on chromosome 17. It encodes a protein containing 2,818 amino acids named neurofibromin. . neurofibromin control cell division. When both NF1 genes are defective, either through mutation or allelic loss, not enough neurofibromin is produced and cell division occurs at an uncontrollable rate. The tumors develop from neural crest cells. Because eural crest cells usually turn into
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neurofibromatosis - What is neurofibromatosis...

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