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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. The condition is called segmental NF1 when clinical features are limited to one area of the body. Thirty-four of the children met diagnostic criteria for NF1 during the study period. Thirty-two children met criteria prior to age 72 months, and 2 children met criteria after 72 months.

  • Neurofibromatosis

    The mean number of CALMs at presentation in children eventually diagnosed as having NF1 (11.8 CALMs) was significantly higher than the mean number of CALMs in children not diagnosed as having NF1 (4.6 CALMs). Of the 44 children who had 6 or more typical CALMs at presentation, 34 children met criteria for NF1. Sixty-eight patients had CALMs described as “typical,” while 42 patients had “atypical” CALMs. Only 2 patients with atypical CALMs met criteria for NF1. Scientists don’t know how to prevent neurofibromas from growing.

 

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