RECURRENT MIDFACIAL PLEXIFORM NEUROFIBROMA ASSOCIATED WITH NEUROFIBROMATOSIS TYPE 1: A CASE REPORT

Abstract

Plexiform neurofibroma (PNF) is a rare benign peripheral nerve sheath tumor and a pathognomonic manifestation of Neurofibromatosis Type 1 (NF1). These tumors are characterized by diffuse infiltrative growth involving multiple nerve fascicles and are associated with significant cosmetic deformity, functional impairment, recurrence, and risk of malignant transformation. Craniofacial involvement poses considerable diagnostic and surgical challenges because of extensive soft tissue infiltration and proximity to vital anatomical structures. A review of head and neck neurofibromas reported that approximately 25% of all neurofibromas are seen in the head and neck region and 6.5% occur in the oral cavity as solitary or multiple lesions associated with NF-1. ¹ This report presents a 29-year-old male with a 17-year history of progressively enlarging recurrent midfacial swelling associated with NF1. The patient had previously undergone two surgical debulking procedures, both followed by rapid recurrence. Clinical examination revealed a large lobulated left midfacial mass with classical “bag of worms” consistency, axillary freckling and an intraoral palatal swelling. MRI and ultrasonography demonstrated diffuse infiltrative soft tissue involvement with associated vascular-lymphatic malformation. Histopathological examination showed thickened nerve bundles composed of Schwann cells with wavy hyperchromatic nuclei embedded within a myxoid stroma, confirming the diagnosis of plexiform neurofibroma. This case highlights the aggressive recurrent nature of craniofacial PNF and emphasizes the importance of clinicoradiological and histopathological correlation for accurate diagnosis and long-term management.