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