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Neurofibromatosis

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  • Neurofibromatosis

    There are three major clinically and genetically distinct forms of neurofibromatosis: neurofibromatosis types 1 and 2 (NF1 and NF2) and schwannomatosis. NF1, also known as von Recklinghausen disease, is the most common type. The hallmarks of NF1 are the multiple café-au-lait macules and neurofibromas.

  • Neurofibromatosis

    All forms of NF are autosomal dominant genetic disorders which can be inherited from a parent who has NF or may be the result of a new or "spontaneous mutation" (change) in the sperm or egg cell. Each child of an affected parent has a 50% chance of inheriting the gene and developing NF. The type of NF inherited by the child is always the same as that of the affected parent, although the severity of the manifestations may differ from person to person within a family.Soft-tissue sarcomas, which result in approximately 10,700 diagnoses and 3,800 deaths per year in the United States1, show remarkable histologic diversity, with more than 50 recognized subtypes2.

 

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