Erdheim Chester - a rare disease with unique endoscopic features

Area of Science:

• Gastroenterology
• Histiocytosis
• Rare Diseases

Background:

• Erdheim-Chester disease (ECD) is a rare systemic histiocytosis of unknown etiology.
• Characterized by infiltration of CD68 positive, CD1a/S100 negative histiocytes.
• Clinical presentation varies based on organ involvement.

Observation:

• This case report focuses on a patient with Erdheim-Chester disease.
• The patient presented with distinct gastrointestinal manifestations.
• Unique endoscopic appearances were observed during gastroscopy and colonoscopy.

Findings:

• Histological examination confirmed histiocyte infiltration of the lamina propria in the gastrointestinal tract.
• The clinical and endoscopic findings in the gastrointestinal tract are novel.
• This study highlights previously undescribed features of gastrointestinal involvement in ECD.

Implications:

• Adds to the understanding of Erdheim-Chester disease's diverse clinical spectrum.
• Provides valuable information for diagnosing and managing gastrointestinal manifestations of ECD.
• Highlights the importance of endoscopic evaluation in suspected ECD cases with GI symptoms.