NEUROFIBROMATOSIS TYPE 1

Abstract

Neurofibromatosis type 1 (often abbreviated to NF1) is associated with myriad features, some of which are congenital anomalies while others are age-related abnormalities of tissue proliferation. It is an autosomal dominant condition with a high degree of variability in clinical expression. Although it is fully penetrant in adults, there is an age-related penetrance for a number of the individual clinical signs. Cutaneous manifestations include cafe-au-lait patches, distinctive freckling patterns, and dermal neurofibromas. Other signs include Lisch nodules, skeletal dysplasia, optic pathway tumor, and plexiform neurofibroma. Neurofibromatosis type 1 affects approximately 1 in 3500 individuals worldwide. Keywords: neurofibromatosis type 1; NF1; cafe-au-lait patches; neurofibroma; Lisch nodule; pseudarthrosis; optic pathway tumor