Misdiagnosed retroauricular plexiform neurofibroma as hemangioma in a child with familial NF1: A case report

Plexiform neurofibromas (PNF) in neurofibromatosis type 1 (NF1) can mimic infantile hemangiomas on MRI, leading to misdiagnosis and inappropriate interventions. We highlight this diagnostic challenge and the role of genetic testing. A 14-year-old male with a retroauricular mass, initially misdiagnosed as a hemangioma, received an unsuccessful intralesional bleomycin injection before surgical resection. Histopathology confirmed a PNF. Trio-based whole-exome sequencing identified a pathogenic NF1mutation (c.6446_6447delinsAA) in the proband. Segregation analysis confirmed the same variant in his mother and sibling, establishing familial NF1. The patient recovered well postoperatively. This case underscores the risk of misdiagnosing PNF as hemangioma and emphasizes the necessity of a high suspicion for NF1, detailed family history, and application of diagnostic criteria. Genetic testing, particularly trio WES, is crucial for clarifying ambiguous diagnoses and identifying familial cases.