Neurofibromatosis type 1 clinical features and management

Abstract

Neurofibromatosis type 1 (NF1) or von Recklinghausen's disease is one of the most common genetic disorder. It is characterized by a wide variability and unpredictability of clinical manifestations involving multiple organ systems. Several complications affecting life expectancy can occur in affected patients. We reviewed genetic mechanisms, clinical aspects of the syndrome and multidisciplinary management required for NF1 patients.