Pancreatic involvement in Erdheim-Chester disease: Rare presentation of a rare disease

Area of Science:

• Histiocytosis research
• Rare disease diagnosis
• Medical imaging analysis

Background:

• Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis with diverse clinical presentations.
• Histological hallmarks include foamy macrophage infiltration across multiple organs, frequently affecting bone, retroperitoneum, cardiovascular, and central nervous systems.
• Pancreatic involvement in ECD is exceptionally uncommon.

Observation:

• A 73-year-old female patient presented with Erdheim-Chester disease.
• Imaging studies including CT, MRI, and PET scans revealed involvement of the pancreas.
• The pancreatic manifestation mimicked a pancreatic mass.

Findings:

• This case documents a rare instance of pancreatic involvement in Erdheim-Chester disease.
• Radiological findings were consistent with a pancreatic mass, necessitating further investigation.
• The study emphasizes the diagnostic challenge posed by ECD's varied presentations.

Implications:

• Increased awareness of ECD as a differential diagnosis for pancreatic masses is crucial for radiologists.
• Early and accurate diagnosis of ECD can lead to timely management and improved patient outcomes.
• This report contributes to the understanding of ECD's rare extrapancreatic manifestations.