Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective.
Historically, neurofibromatosis 1 (NF1) has been inextricably linked with neurofibromatosis 2 (NF2). Both are inherited autosomal-dominant neurocutaneous disorders that have high de novo mutation rates and carry a high risk of tumour formation. However, they are clinically and genetically distinct diseases and should be considered as seperate entities. NF1 is a common disease that mainly affects the skin and peripheral nervous system and causes characteristic bony dysplasia. By contrast, NF2 is a rare disorder with a relative paucity of skin manifestations and high-grade malignancy is unusual. Neurological symptoms are the predominant problem and the cardinal sign is bilateral vestibular schwannomas. In this Review, I discuss the pertinent diagnostic, clinical, and genetic symptoms of NF1 and NF2. I also examine the current views on the pathogenesis of these neurocutaneous disorders in the wake of advances in molecular genetics and the development of mouse models of disease.
Ferner
Rosalie E
RE
Department of Neurology, Guy's and St. Thomas' Hospitals, Guy's Hospital, London, UK. rosalie.ferner@kcl.ac.uk
D003072:Cognition Disorders / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D003937:Diagnosis, Differential; D018450:Disease Progression; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009442:Neurilemmoma / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018318:Neurofibroma, Plexiform / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D016518:Neurofibromatosis 2 / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology