Neurofibromatosis type 1 (NF1): diagnosis and management

摘要: Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and bone. Individuals with NF1 have predisposition to benign malignant tumor formation hallmark lesion neurofibroma, peripheral nerve sheath tumor. The gene for was cloned chromosome 17q11.2 neurofibromin, protein, controls cell growth proliferation by regulating proto-oncogene Ras cyclic adenosine monophosphate (AMP). Advances in molecular biology mouse models of enhanced our understanding pathogenesis complications facilitated targeted therapy. Progress been made developing robust clinical radiological outcome measures trials are underway children learning difficulties individuals symptomatic plexiform neurofibromas.