Ankle Swelling in Patients With Type 1 Neurofibromatosis: A Report of Two Cases With Rare Presentation of Common Genodermatosis

Abstract

Neurofibromatosis type 1 is characterized by multiple cutaneous neurofibromas of varying sizes along with skeletal, neurologic, and ophthalmic features. Solitary swellings in neurofibromatosis type 1 are not commonly encountered except in the form of plexiform neurofibromas. We report two cases with neurofibromatosis type 1 presenting with solitary swelling in the ankles which were proven to be the diffuse type of neurofibroma, radiologically and histopathologically. Diffuse type neurofibroma presenting as ankle swelling in type 1 neurofibromatosis has not been reported before.