Abstract
Langerhans cell histiocytosis (LCH) is a rare disease with uncertain etiology. Langerhans cell histiocytosis with involvement of the gastrointestinal tract is rare and is typically identified in pediatric patients with systemic disease. The present study reports two infantile cases of LCH who initially presented with diarrhea, hematochezia, and rash and were histologically missed on the original examination of the colonic biopsy sections. The diagnosis of LCH was later verified through immunohistochemistry. By combining our experience and previous reports, the multiple hemorrhagic spots of the colorectal mucosa and narrowness and erosion of the distal duodenum might be suggestive manifestations of gastrointestinal involvement in LCH on endoscopic examination. This might be helpful for the early recognition of the disease.
Highlights
Langerhans cell histiocytosis (LCH) is a rare disease with uncertain etiology
Langerhans cell histiocytosis can involve any part of the digestive tract, with the most common being the duodenum and colon [3]
We report two infants who presented with refractory diarrhea and hematochezia and were diagnosed with LCH based on specific endoscopic manifestations, histopathology, and immunohistochemistry
Summary
Langerhans cell histiocytosis (LCH) is a rare disease with uncertain etiology. It is characterized by the abnormal proliferation and dissemination of Langerhans cells derived from the bone marrow. We report two infants who presented with refractory diarrhea and hematochezia and were diagnosed with LCH based on specific endoscopic manifestations, histopathology, and immunohistochemistry. This revealed multiple hemorrhagic spots, erosions, and ulcerations of the mucosa from the ascending colon to the rectum (Figure 1). Histopathology of the biopsy revealed infiltration of intermediate-sized mononuclear cells with abundant cytoplasm and convoluted nuclei Many of these cells in the colorectal mucosa had linear grooves consistent with Langerhans cells, accompanied by eosinophil infiltration. A 5-month 24-day-old female infant presented with poor weight gain, recurrent diarrhea, and hematochezia for 2 months. This revealed infiltration of large atypical cells with grooved nuclei and an abundant eosinophilic cytoplasm in the ileocecal, descending colon, and rectum mucosa, which stained positive for CD1a and S-100 (Figure 3). The targeted BRAF(V600) medicine, dabrafenib, was administered orally, after which the patient became stable
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