Orthopedic Manifestations of Recklinghausen's Neurofibromatosis

Recklinghausen's neurofibromatosis is an autosomal dominant congenital disorder with a wide range of clinical manifestations. Based on a retrospective study of 12 patients with Recklinghausen's neurofibromatosis, we describe the various orthopedic manifestations and their treatment. Dystrophic kyphoscoliosis was the most common finding (8 cases). Surgical treatment was required in half of these cases. Congenital leg deformities and pseudarthrosis were observed in 4 cases; 2 patients were treated with an Ilizarov fixator. Four plexiform neurofibromas in 3 patients and 2 nodular neurofibromas were observed. Transformation into neurofibrosarcoma occurred in two patients. Orthopedic manifestations in Recklinghausen's neurofibromatosis are common and highly variable, affecting both the skeleton and soft tissues. They should be detected at an early age to facilitate management, given their potential for progression and their consequences. They require regular lifelong monitoring. The functional and, in some cases, vital prognosis is at stake.