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The National Institute of Health defines Neurofibromatoses as group genetic disorders that affects the development and growth of neural cell tissues These disorders cause tumor growth in nerve tissues skin changes and in some cases bone deformities Of the eight possible subtypes of Neurofibromatosis NF at least 85 are represented by NF Type 1 also known as von Recklinghausen or classic peripheral neurofibromatosis It has a prevalence of about 14000 live births An additional ten percent have NF Type 2 also known as acoustic or central neurofibromatosis and occurs in about 150000 live births Baskin 1 This paper will deal only with the more prevalent NF Type 1 and focus on the symptoms of the disease and biochemical aspects of the NF1 and the ethical implication of inherited genetic disorders NF1 is an autosomal dominant inherited disease characterized by multiple caf-au-lait spots numerous fibromas and Lisch nodules Most manifestations appear during childhood and early adult life Clinical criteria for diagnosing the disease must include two or more of the following symptoms 1 six or more caf-au-lait spots larger that 5 mm in pre-pubescent individuals and greater than 15 mm is post-pubescent individuals 2 two or more neurofibromas of any type or one plexiform neurofibroma 3 axillary or inguinal freckling 4 sphenoid bone dysplasia 5 optic glioma 6 Lisch nodules and 7 a family history of NF1 Other manifestations include learning disabilities epilepsy mental retardation scoliosis gastrointestinal neurofibromas pheochromacytomas and renal artery stenosis Goldman 2074 Caf-au-lait spots are pigmented macules of giant melanin granules seen in the basal layer of the epidermis and are distinguished by the presence of more DOPA-positive melanocytes than surrounding skin and a smooth border and light brown color of the macules Neurofibromas are hamartomatous a mass of disorganized tissue indigenous to a particular site Robbins 134 that are composed mostly of Schwann cells but also contain fibroblasts mast cells and macrophages Plexiform neurofibromatoas large multilobe pendulous masses are more
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