Erdheim Chester disease: a subtle quiddity; the first case reported from Nepal

Area of Science:

• Oncology
• Pathology
• Rare Diseases

Background:

• Erdheim-Chester disease (ECD) is a rare, aggressive non-Langerhans cell histiocytosis of unknown etiology.
• Classical presentations involve bone pain, constitutional symptoms, and characteristic histological findings.
• ECD is exceptionally rare, with limited reported cases globally.

Observation:

• This report details the first case of ECD diagnosed in Nepal.
• The patient presented with localized right-sided chest pain.
• Diagnostic evaluation included bone scan and excisional bone biopsy.

Findings:

• Histopathological findings from the bone biopsy confirmed the diagnosis of ECD.
• The case underscores the diverse clinical presentations of ECD.
• This represents a significant contribution to the literature from Nepal.

Implications:

• Highlights the importance of considering rare diseases like ECD in differential diagnoses.
• Emphasizes the need for increased awareness and diagnostic capabilities for rare conditions in Nepal.
• Contributes to the global understanding of ECD's presentation and diagnosis.