Neurofibromatosis - Diagnostic Assessment

摘要: Descriptions of individuals supposed to have neurofibromatosis been discovered in manuscripts dating from 1000 AD (Zanca, 1980). However, it was not until 1881 that Von Recklinghausen coined the term ‘‘neurofibroma’’ when he observed this benign tumour arose peripheral nerve sheath. His colleagues honored his contribution by naming condition Recklinghausen’s disease. different forms were separated and delineated latter part twentieth century (Ferner et al., 2007a). Neurofibromatosis is one called “neurocutaneous disorders” or “phakomatoses”, genetic diseases involve both skin nervous system. They share some features: hereditary transmission, involvement organs ectodermal origin a tendency develop certain types central system tumours. Advances clinical genetics allowed separate two diseases, each caused gene, although recognition still requires an appreciation cutaneous systemic symptoms. 2007a, 2010)