U xơ thần kinh thể đám rối giả dị dạng tĩnh mạch: Báo cáo hai trường hợp lâm sàng

Abstract

Plexiform neurofibroma (PNF) is the rarest subtype of neurofibroma and is typically associated with neurofibromatosis type 1 (NF1). It is characterized by diffuse proliferation along nerve fascicles with infiltration into adjacent tissues, making it challenging to differentiate from vascular malformations or other soft tissue tumors. We describe two male patients with PNF who were initially misdiagnosed with vascular malformations. The first case involved a 27-year-old man with a shoulder mass, and the second, a 16-year-old boy with a maxillofacial–temporal mass. Both lesions demonstrated typical sonographic and MRI features of PNF, including tortuous tubular structures, the “target sign,” and the “bag of worms” appearance. Surgical resection was performed, and histopathological examination confirmed the diagnosis in both cases. These cases highlight the pivotal role of imaging in the detection, diagnostic orientation, and management of PNF, as well as the need for careful follow-up due to the potential risk of malignant transformation into malignant peripheral nerve sheath tumor (MPNST).