title: Neurofibromatoses.
abstract: The studies of familial tumor predisposition syndromes have contributed immensely to our understanding of oncogenesis. Neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis are inherited autosomal dominant neurocutaneous disorders with complete penetrance. They are clinically and genetically distinct and considerable knowledge has been gathered about their pathogenesis. In this chapter, the genetics, molecular mechanism of disease, as well as clinical features, diagnosis and treatment are discussed.
authors.affiliation: Massachusetts General Hospital, Boston, MA, USA.
authors.forename: Erik J
authors.initials: EJ
authors.lastname: Uhlmann
authors.forename: Scott R
authors.initials: SR
authors.lastname: Plotkin
mesh_terms: D006801:Humans; D008279:Magnetic Resonance Imaging; D017253:Neurofibromatoses / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000235:genetics; D016518:Neurofibromatosis 2 / Q000235:genetics