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Primary Care for Patients with Neurofibromatosis 1

any practitioners are surprised to discover that neurofibromatosis type 1 (NF1) is one of the most common genetic syndromes, affecting approximately 1 in every 3,000 to 4,000 live births. The incidence of NF1 is comparable to that of cystic fibrosis. Neurofibromatosis 1 and 2 were once collectively known as von Recklinghausen’s disease. It is now understood that these are two distinct genetic disorders affecting two separate chromosomes. Neurofibromatosis type 1, the more common of the two, is an autosomal dominant disorder of chromosome 17. Over 50% of all new cases of NF1 are the result of a spontaneous genetic mutation. Spontaneous mutations occur more often in the NF1 gene than any other human gene. The affected gene is a tumor suppressor gene that produces the protein neurofibromin. Neurofibromin is similar to another protein, guanosine triphosphatase-activating protein (GAP) that has been indicated as a factor in tumor suppression in some types of cancers and possibly as a regulator of chemical interactions and cell growth. The similarities between these two proteins indicate that neurofibromin may play a similar role in cell growth regulation and a lack of this protein may be responsible for the abnormal cell growth and tumor development that occurs in NF1. Neurofibromatosis type 1 is a progressive systemic disorder with a variety of manifestations, the most common being pigmentation disorders, tumor growth, and skeletal abnormalities.There are other manifestations M