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Affected individuals may need multiple surgeries (such as reduction surgery, or Gamma knife surgery), depending on where the tumors are located.For instance, those affected with NF 2 might benefit from a surgical decompression of the vestibular tumors to prevent deafness.Since the tumors grow where there are nerves, they can also grow in areas that are visible, causing considerable social suffering for those affected.The tumors can also grow in places that can cause other medical issues that may require them to be removed for the patient’s safety.This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood.Both NF-1 and NF-2 are autosomal dominant disorders, meaning only one copy of the mutated gene need be inherited to pass the disorder.“PGD has about 95-98% accuracy but requires that the partner with NF2 have a recognizeable genetic mutation, which is only the case for about 60% of people with a clinical diagnosis of NF2.

It accounts for only 10% of all cases of NF, and its frequency is lower than NF1.

The disorder affects all neural crest cells (Schwann cells, melanocytes and endoneurial fibroblasts).

Cellular elements from these cell types proliferate excessively throughout the body, forming tumors; melanocytes also function abnormally in this disease, resulting in disordered skin pigmentation and “cafe-au-lait” spots.

In the case of NF1, no clear links between genotype and phenotype have been found, and the severity and the specific nature of the symptoms may vary widely among family members with the disorder.

This is a good example of the phenomenon of variable expressivity: the differing severities of disease in different individuals with the same genotype.