Repeated Multiple Neurofibromatosis Type 1 in the Right Lower Limb: A Case Report

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal-dominant genetic disease characterized by the presence of multiple neurofibromas. We encountered a unique case of NF1 that manifested as a recurrent soft tissue neurofibroma in the right lower limb that developed over a period of 16 years. The patient presented with a painless mass that was initially diagnosed as inflammatory changes via computed tomography and magnetic resonance imaging. However, the condition was subsequently diagnosed as an intraneural neurofibroma via pathological and immunohistochemical examination, which showed a focal to patchy lymphocytic chronic inflammatory infiltrate and several non-encapsulated masses with clear boundaries that were easily distinguishable from the adjacent neurofibroma. The mass relapsed three times over 3 years since it was discovered, for which the patient underwent comprehensive and complete local resection several times. Postoperative continuous follow-up confirmed that the patient recovered well. Early and complete surgical resection is an effective method for treating and preventing recurrent neurofibromas. However, because of the importance of pathologic examination in the diagnosis of such cases, this uncommon entity might be underreported in patients with NF1.