Neurofibromatosis

Neurofibromatosis - Neurofibromatosis By Shannon Weeks What...

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Unformatted text preview: Neurofibromatosis By Shannon Weeks What is Neurofibromatosis? Neurofibromatosis type I (NF1) is caused by mutation in the neurofibromin gene AKA von Recklinghausen disease , Watson disease An autosomal dominant neurogenetic disorder Characterized by the presence of multiple benign neurofibromas Affects the bone, the nervous system, soft tissue, and the skin Clinical symptoms increase over time Neurologic problems and malignancy may develop Neurofibromatosis-1 NF-1 occurs in approximately 1 of 2500-3300 live births This disease can involve various body systems over time Signs can range from benign cutaneous manifestations to extreme disfigurement The mortality rate is higher than that of the healthy population because of the increased potential for malignant transformation of diseased tissues and the development of neurofibrosarcoma Patients with NF-1 have about a 3-15% additional risk of malignant disease in their lifetime All racial groups are affected equally Women and men are affected equally Genotype/Phenotypeect Increased concentrations of nerve growth stimulating activity have been linked with the development of neurofibromatosis NF-1 is a disorder with variable phenotypic expression...
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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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Neurofibromatosis - Neurofibromatosis By Shannon Weeks What...

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