ABSTRACT
The pattern of the disease is variable despite strict criteria that have been laid down to facilitate diagnosis. No therapeutic avenue has yet been found to prevent the occurrence of the tumours.
Background
1. Genetics. Type 1 neurofibromatosis (NF1, peripheral, von Recklinghausen’s disease, VRNF) is inherited as an autosomal dominant disease with 100% penetrance and variable expressivity. The responsible gene is located at chromosome 17 ql1.2. The gene product is neurofibromin, a GTPase activating protein (GAP), which normally acts as a tumour suppressor agent and interacts with the ras oncogene.
