Neurofibromatosis Research Papers

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Understanding Neurofibromatosis
Neurofibromatosis affects about 100,000 Americans. This disease can affect all ages, sexes, and ethnic groups. Neurofibromatosis is a nervous disorder that causes tumors inside and outside of the body. According to Norris M. Haynes (2011), Some individuals may only have mild skin lesions, and others may have more physically disfiguring tumors and life threatening complications. The chance of having this neurofibromatosis is a large concern to the patient and family, which is why it's important to understand the disorder. The three main factors of understanding what neurofibromatosis is, are signs and symptoms, causes and diagnosis, and treatments for the disease.
What is neurofibromatosis?
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Type 1 signs are birthmarks, freckles, neurofibromas, and lisch nodules. If 6 or more birthmarks appear on a child before the age of 5 the type 1 neurofibromatosis would be considered. If outbreaks of freckles in unlikely places such as groin and armpits this could be a possible sign for type 1. If neurofibromas (which is non-cancerous tumors that may grow on nerves of skin) appear deeper inside the body this may also be considered a sign for type 1. Also, if lisch nodules appear in the iris of the eye, this can also be a sign for neurofibromatosis type 1. Type 2 signs are acoustic neuroma, other tumors, and cataracts. Acoustic neuroma are tumors that develop next to the eighth cranial nerve, which goes from the brain to the inner ear. Acoustic neuroma is the most common sign of type 2 and has symptoms of facial numbness, gradual hearing loss, loss of balance, ringing of the ear, vertigo, and facial weakness. If other tumors develop on skin, brain, or spinal cord then this is a sign of type 2. For older people, cataracts can also be a sign for type 2…show more content…
A defective gene can be inherited by a parent or suddenly change for no reason. Neurofibromatosis type 1’s defective gene can be found on chromosome number 17. Neurofibromatosis type 2’s defective gene can be found on chromosome number 22. Type 1 neurofibromatosis occurs in about 1 in 2,500 to 3,000 individuals in the population (Haynes,2011). Birthmarks, freckles, and skin lumps are the main sign of neurofibromatosis, but if an individual has two or more signs a diagnosis will be made. If a physician suspects Neurofibromatosis type 2 they will refer the patient to a specialist for test. A diagnosis can be made for Neurofibromatosis type 2 if there is an acoustic neuroma in one ear and other symptoms, a CT scan or MRI, and a blood sample. Family history is also a factor in the
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