Clinical characteristics of pruritus in neurofibromatosis 1

Abstract

Neurofibromatosis 1 (NF1) is an autosomal dominant disease that affects approximatively 1/3,000 people worldwide (1). This disease results from a germline mutation in the NF1 tumor suppressor gene encoding a Ras-GTPase activating protein neurofibromin, which is expressed throughout the nervous system. The manifestations of NF1 are extremely variable, even within a family. NF1 is clinically characterized by tumour formation leading to the generation of optic gliomas, neurofibromas, malignant peripheral nerve tumours, and an increased incidence of rare cancers. NF1 is a cause of pruritus, which frequency has been evaluated at 19.4% in people with NF1 (2). The aim of this study was to evaluate, with a questionnaire, the characteristics of pruritus in patients with NF1.