Genetic Diseases


A Few words about Neurofibromatosis

Neurofibromatosis is a genetic disorder that results in the formation of tumors around the nerves of the body. Most of these tumors remain non cancerous although they can over time develop into cancerous tumors. Neurofibromatosis (NF) affects both sexes and all races and ethnic groups. There are two forms of this disease NF1 and NF2. The second variant of this disease is the most dangerous as the tumors formed in NF2 patients affect the eighth cranial nerve a nerve in the brain of these sufferers. There is estimated to be 100,000 sufferers of NF in the United States.

Symptoms and Signs of Neurofibromatosis

NF1 sufferers show numerous tan patches of skin known as cafe-au-lait spots (they will have at least five if not more of these patches), freckles appearing in the groin or armpit and skin neurofibromas, which are small rubbery skin lesions, are also common. Masses in the spinal cord and brain among other neurologic complications are other symptoms to which children with NF are susceptible.

Cafe-au-lait spots and skin neurofibromas are not common symptoms of NF2 sufferers. The tumors surrounding the eighth cranial nerve in these patients lead to hearing and balance loss, facial weakness and headaches. Lens abnormalities in the eyes, brain and spinal tumors can also be caused by NF2.

Causes of Neurofibromatosis

Neurofibromatosis is a genetic disorder in which affects the NF1 and NF2 genes from producing specific proteins that control cell production. Without these controlling proteins cell growth spirals out of control and tumors develop.
Neurofibromatosis can be an inherited genetic problem or the genetic abnormality can occur sporadically (not be caused by inheritance). The amount of variance between sufferers of this disease makes the ability to predict the severity or the possibility of serious complications impossible – even for suffers in the same family.

Neurofibromatosis Treatment

Treatment for NF1 includes the surgical removal of tumors. There is however no medical consensus as to the best surgical method for this removal, hence detailed discussions with your treating doctor to assess if the proposed method is right for you is advised. Bone abnormalities can be surgically corrected and there are surgical and chemical options to shrink tumors affecting the eye when the vision is threatened. In the very rare event that NF1 tumors become cancerous (3 to 5 %) surgery, radiation or chemotherapy may be offered.

Surgery is available to NF2 sufferers although long term watching of these slow growing tumors may be preferable because of the increased chance of surgical complications.

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