Temporal Findings of Erdheim-Chester Disease A Case Report and Review of the Literature

Introduction: Erdheim-Chester Disease (ECD) is a rare non-Langerhans cell histiocytic disorder, first described in 1930. Its diverse manifestations range from asymptomatic bone lesions to severe systemic involvement. Herein, we report a novel case of ECD presenting with temporal bone pain, a symptom not previously described in the literature. Methods: We observed and analyzed the symptoms, clinical history, and imaging manifestations of a patient presenting with significant temporal bone pain. The diagnosis was confirmed via a biopsy. We also investigated the presence of the BRAFV600E mutation, which is known to be present in over half of ECD cases. Results: The patient presented with significant temporal bone pain on pressure but exhibited no clinical signs of urinary collapse or neurological symptoms. Imaging studies showed typical signs of ECD, and a biopsy confirmed the diagnosis. Genetic testing revealed the presence of the BRAFV600E mutation. Conclusion: This case extends our understanding of the clinical manifestations of ECD and highlights the potential for variable symptomatology. Temporal bone pain may be a novel presentation of ECD, emphasizing the need for a high index of suspicion and thorough evaluation in patients presenting with unexplained bone pain. The confirmation of the BRAFV600E mutation in this patient underlines its potential as a therapeutic target in ECD. Future research is necessary to fully elucidate the clinical significance and treatment implications of this novel presentation.