Review Question - QID 423

The radiographs in Figure A show radial bowing. Image B shows a Lisch nodules. These findings are consistent with neurofibromatosis. Neurofibromatosis is an autosomal dominant condition that has multiple cutaneous and musculoskeletal manifestations including café au lait spots, neurofibromas on the skin, Lisch nodules in the eye, scoliosis, and long bone bowing & pseudoarthrosis. It is caused by a mutation in NF1 gene that codes for neurofibromin protein. The reference by Bell et al is a case series of 6 patients with congenital pseudoarthrosis of the forearm. They found promising results utilizing a free vascularized fibular transfer, and present it as an alternative to existing treatment options. The reference by Feldman et al reviews the different orthopaedic manifestations of neurofibromatosis type I. They emphasize a multidisciplinary treatment approach as NF-1 affects multiple organ systems. Anterolateral tibial bowing is a common presenting condition, and is more common than forearm bowing.