Related Experiment Videos
Langerhans cell histiocytosis presenting as Crohn's disease: a case report
Amelie Therrien1, Zaki El Haffaf2, Claire Wartelle-Bladou3
1Department of Medicine, Division of Gastroenterology, Centre Hospitalier de l'Universite de Montreal, 1051 rue Sanguinet, Montreal, QC, H2X 3E4, Canada. amelie.therrien.3@umontreal.ca.
Insights
Langerhans cell histiocytosis (LCH) can mimic Crohn's disease and primary sclerosing cholangitis. Early suspicion and diagnosis are crucial, especially when standard treatments fail.
Area of Science:
- Gastroenterology
- Histopathology
- Oncology
Background:
- Langerhans cell histiocytosis (LCH) is a rare clonal proliferative disorder of Langerhans cells.
- LCH typically affects children but can occur in adults, presenting with diverse clinical manifestations.
Observation:
- A 39-year-old male presented with symptoms mimicking Crohn's disease (anal fissures, colonic ulcers) and primary sclerosing cholangitis (biliary strictures).
- Initial treatments for inflammatory bowel disease (IBD) were ineffective, and the patient developed cutaneous xanthogranulomas and panhypopituitarism.
- Histological re-evaluation of colonic biopsies revealed characteristic Langerhans cells, leading to an LCH diagnosis.
Findings:
- The patient's colonic biopsies showed chronic active colitis, initially diagnosed as Crohn's disease.
- Immunohistochemistry confirmed Langerhans cells (S100, CD1a, vimentin positive).
- A BRAF V600E mutation was identified in a bile duct sample.
Implications:
- LCH should be considered in the differential diagnosis of inflammatory bowel disease (IBD) and primary sclerosing cholangitis (PSC).
- Failure to respond to conventional IBD treatment warrants further investigation for alternative diagnoses like LCH.
- Recognition of LCH in adults can be challenging due to its varied presentations and potential mimicry of common gastrointestinal and liver diseases.
Purpose:
We describe an exceptional case of Langerhans cell histiocytosis (LCH) that presented as Crohn's disease and primary sclerosing cholangitis.
Methods:
The patient's clinical, endoscopic, and histologic data from the Centre Hospitalier de l'Universite de Montreal were reviewed, as well as the literature on LCH involving the digestive tract and the liver, with a focus on the similarities with Crohn's disease and primary sclerosing cholangitis.
Results:
A 39 years-old man first presented with anal fissures and deep punctiform colonic ulcers. Histologic assessment of colon biopsies showed chronic active colitis, consistent with Crohn's disease. Mild cholestasis and endoscopic retrograde cholangiopancreatography (ERCP) showing multiple intra and extrahepatic biliary tract strictures also led to a diagnosis of sclerosing cholangitis. Perianal disease progressed despite conventional treatment with antibiotics and infliximab. Subsequent discovery of non-Langerhans cutaneous xanthogranulomas and panhypopituitarism raised the suspicion of LCH, and a second review of colon biopsies ultimately led to the diagnosis, with the identification of Langerhans cells depicting elongated, irregular nuclei with nuclear grooves as well as immunohistochemical reactivity for S100, CD1a and vimentin. BRAF V600E mutation was detected afterwards by DNA sequencing of a bile duct sample.
Conclusion:
LCH may mimic inflammatory bowel disease (IBD) and must be suspected in the presence of other suggestive clinical signs, or when there is failure of conventional IBD treatment.