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Neurofibromatosis



Neurofibromatosis Causes


Neurofibromatosis is caused by the mutation in the neurofibromin gene. It is an autosomal dominant disorder of chromosome 17.


Neurofibromatosis Definition


Neurofibromatosis is an autosomal dominant genetic disorder. Neurofibromatosis covers all distinct genetic disorders that cause tumors to develop along different nerves.


Neurofibromatosis Diagnosis


Clinical findings combined with indicated diagnostic procedure like CT scan, X-ray or MRI is essential to arrive at the proper diagnosis of neurofibromatosis.


Neurofibromatosis Symptoms and Signs


Most of the symptoms of Neurofibromatosis arise from tumor complications. Here are some of the identifiable symptoms of this disorder: * Multiple skin lumps that may range from few to thousands; soft painless skin lumps * Neurofibromas * Skin abnormalities * Freckles in the armpit or groin * Pigmented birth marks * Skeletal abnormalities like bow legs or scoliosis * Lisch nodules (benign tumors affecting the iris) * Tumor located in the optic nerve (Optic Glioma)


Neurofibromatosis Treatment


Neurofibromatosis has no particular effective treatment. The following management therapy can help improve the condition, but not totally cure the condition of the person suffering from Neurofibromatosis: * Surgical excision of the tumor * Radiation therapy or the use of radiation rays to destroy cancer cells and minimize the size of the tumor until complete shrinking is achieved. * Chemotherapy or treatment with drugs for the purpose of killing cancer cells.


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