Cervical Lymphadenopathies as Unusual Presentations of Erdheim-Chester Disease: The Need for Knowledge for Diagnosis...

The appearance of cervical adenopathies can occur in many pathologies in a non-specific manner; Erdheim-Chester disease (ECD) is characterized by xanthogranulomatous and xanthomatous infiltration of different tissues with numerous foamy histiocytes. Bone lesions are frequent and radiological features are pathognomonic for diagnosis, but lymph node involvement is exceptional and is not a form of presentation reported in the literature. Recurrent BRAFV600E mutation and others have been discovered in recent years. Since then, several treatments targeting the BRAF and MEK pathways have been developed with high success rates; even so, interferon-α continues to be one of the most widely used treatments. The best imaging test for the study and monitoring of the disease is PET-CT. The prognosis of ECD is relatively poor, with a survival of 43% of patients after 32 months follow-up. Higher survival rates have been reported in patients treated with interferon. The authors present an exceptional case of ECD with cervical adenopathies as a debut, highlighting the need for the knowledge of the disease for differential diagnosis, early treatment, and the importance of communication between the clinician and the pathologist. The main features of the disease and a brief discussion of current diagnosis and treatment are reviewed.