With an incidence of 1 in 3,000, neurofibromatosis type 1 (NFl), or von Recklinghausen disease, is one of the most common genetic disorders encountered by primary care physicians. NFI is a multisystem disease that affects more than one million people worldwide (more than 80,000 in the United States). Although most pediatricians have patients with NFl in their practices, many affected individuals go undiagnosed as children. This article is intended to facilitate the diagnosis and management of young patients with NFl.
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