Giant plexiform neurofibroma of lower limb: Importance of radiology in diagnosis, complications and management

Abstract

Plexiform neurofibromatosis is reported to occur in 26.7% of patients with type I neurofibromatosis. Plexiform neurofibromas present at, or soon after, birth as areas of hyperpigmentation, thickening of the skin and excess hair. In 50 percent of cases, it results from autosomal dominant transmission and in the remaining 50 percent of cases it arises as a spontaneous genetic mutation with no known cause. It affects all three germ layers and it is capable of involving any organ system. Plexiform neurofibroma pathognomonic of von Recklinghausen disease (neurofibromatosis type 1) and the gene responsible for the disorder is located in the chromosome region 17q11.2. The aim of this article is to report a rare case of giant plexiform neurofibromatosis in 15 year old Nigerian boy, its complications, its association with birth mark and hyperpigmentation, and its management.