Neurofibromatosis

Neurofibromatosis encompasses a collection of inherited diseases with an autosomal dominant inheritance pattern. There are several forms of neurofibromatosis (NF), each caused by differing gene mutations and therefore clinical manifestations vary between each form. Neurofibromatosis affects multiple organ systems where disease progression is common. Neurofibromatosis type 1, (NF1) formerly known as Von Recklinghausen's disease, is the most common type of neurofibromatosis with multiple musculoskeletal manifestations including scoliosis, pseudarthrosis and limb overgrowth. Common surgical management of the orthopaedic complications includes spinal arthrodesis and stabilisation of pseudarthrosis of the tibia. The management of these musculoskeletal complications is troublesome. Current research aims to improve fixation methods and reduce lifelong deformity.