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Neurofibromatosis (NF) is a branched term used to describe 3 different conditions resulting from the growth of tumors into the central nervous system. The type of the neurofibroma will depend on the types of symptoms that a patient will present with. In NF Type 1, patients will mainly present with skin manifestations of light brown spots, freckling on the armpits and the groin area, small bumps within the nerves and scoliosis. NF Type 2 is a condition typically associated with hearing loss, cataracts, muscle wasting, and problems maintaining balance. 

These lesions are typically not cancerous but they can also be recurrent so treatment can become frustrating for patients affected with this condition. Patients will typically become infected in the first place because of inheriting defective genes from one or both parents. It is a very rare condition but NF2 is a much more common presentation compared to NF1. 

Treatment, as I mentioned before, will be quite a frustrating process for the parents and patient of someone suffering from NF because there are no definitive treatments for the disease. Patients may benefit from occasional operations to help remove some of these growths in order to help improve symptoms. Numerous medications and herbal therapies have been attempted in order to provide additional relief for these diseases but there has yet to be any significant improvements with these therapies. 

The life expectancy of the disease depends highly on the type of the disease that a patient has been diagnosed with. If you are diagnosed with the rarer form of NF Type 1, there should be no dramatic difference in the quality of life of the patient and they should be able to live full lives without too much additional discomfort. Unfortunately, if you have a strong case of NF Type 1, it is possible that your life could be reduced from 10 to 15 years on average. 

Those diagnosed with NF 2, however, will have a reduced life because of this disease. Patients with this disease will typically not present with any signs of the disease until they reach early adulthood and symptoms will become more problematic. Due to the locations of these tumors, patients will risk involvement of their brains early on in the disease and could have life-threatening growths if surgery is not performed. These lesions are typically found near the brainstem or important cranial nerves that can easily become inflamed due to growths. Kaplan-Meier survival curves show that once diagnosed with the disease, approximately 85 percent of patients will be alive by year 5, 67 percent will be alive by year 10, and 38 percent were alive by 20 years after diagnosis.

If you or your partner are someone with a history of one of these mutations, be aware that is an autosomal dominant trait that you can easily pass along to your children. It is important to go for genetic counseling in order to understand your options and reduce your chances of passing these genes along to your children. [1]

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