Neurofibromatosis type 1 presenting with a retroauricular mass as the initial complaint: A case report and literature review

This report describes the clinical and genetic features of a case of neurofibromatosis type 1 (NF1) presenting as a retroauricular mass, aiming to enhance early recognition of the disease by otolaryngologists. The patient was a 26-year-old male who presented with a right retroauricular mass. We describe the clinical and genetic findings and present a 15-year literature review. Physical examination revealed more than six café-au-lait macules, the largest measuring approximately 3 cm). MRI showed a 3.2-cm right retroauricular lesion. The tumor was completely resected and found to be unencapsulated, ill-defined, and hypervascular. Histopathological and immunohistochemical examinations (S-100+, SOX10+) confirmed neurofibroma. A de novo heterozygous nonsense mutation c.999C>A (p.Tyr333Ter) was identified in the NF1 gene. No recurrence was observed at 12 months. It is recommended that total-body skin examinations be performed in patients presented with head and neck soft-tissue masses to screen for NF1. Definitive diagnosis requires histopathology/immunohistochemistry and confirmatory genetic testing.