Erdheim-Chester Disease: Two cases from an ophthalmic perspective

Area of Science:

• Ophthalmology
• Oncology
• Pathology

Background:

• Erdheim-Chester Disease (ECD) is a rare non-Langerhans cell histiocytosis with multi-system involvement and poor prognosis.
• ECD often presents with variable clinical manifestations, necessitating a high degree of suspicion for diagnosis.

Observation:

• Two patients presented with orbital inflammation, initially diagnosed in ophthalmology clinics.
• Both patients were positive for the BRAF V600E mutation.
• Classical radiological and histopathological findings are crucial for diagnosing ECD.

Findings:

• The combination of xanthelasma and bilateral, diffuse intraconal orbital masses strongly suggests ECD.
• Systemic symptoms are not always present, underscoring the need for advanced imaging like CT or PET/CT scans.
• BRAF V600E mutation was identified in both patients.

Implications:

• Prompt diagnosis of ECD is critical for timely initiation of targeted therapies, including BRAF inhibitors.
• Targeted therapies offer improved outcomes, reduced morbidity, and increased survival for ECD patients.
• Ophthalmologists should consider ECD in cases of unexplained orbital inflammation, even without systemic signs.