Neurofibromatosis Its Genetic Implications essays

Neurofibromatosis Its Genetic Implications essays 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 1:4000 live births. An additional ten percent have NF Type 2, also known as acoustic or central neurofibromatosis and occurs in about 1:50,000 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 mas...