Neurofibromatosis – Diagnostic Assessment

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