11.22.06 Cantrell neurofibromatosis

11.22.06 Cantrell neurofibromatosis - Neurofibromatosis...

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Neurofibromatosis type I and it’s Commonly Associated Tumors Matt Cantrell AM Report 11/22/06
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Neurofibromatosis type I (NF1) Most common type of neurocutaneous disorder; also known as von Recklinghausen’s disease An autosomal dominant genetic disorder with incidence of 1 in 2600 to 1 in 3000; ½ cases are familial Disease exhibits 100% penetrance (individual carrying the mutation will be affected), however, it is highly Variable in its expression (severity differs, even among individuals of the same family).
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Genetics NF1 gene codes for protein Neurofibromin, which is hypothesized to play a role as a tumor suppressor gene in p21-ras pathway Mutation causes loss of functional protein, which results in tumor formation Neurofibromin is expressed in many tissues including skin, brain, kidney, spleen, and thymus.
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The most common finding of NF1 is multiple café-au-lait spots-they are light brown in color and described by some clinicians as “coffee with milk” appearance Approximately 10-25% of the general population has café- au-lait spots NF1 is suspected when a patient has 6 or more Diagnostic criteria for NF1 were developed by the NIH Consensus Conference in 1987 and updated in 1997-they are based on clinical findings (Neurofibromatosis. Conference statement. NIH Consensus Development
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This note was uploaded on 12/24/2011 for the course STEP 1 taught by Professor Dr.aslam during the Fall '11 term at Montgomery College.

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11.22.06 Cantrell neurofibromatosis - Neurofibromatosis...

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