case_images: PMC11430356_01
case_images: PMC11430356_02
case_images: Endoscopic images of the patient at 1 year old. (a) Congestion, edema, and erosion of the duodenal bulb mucosa. (b-d) Congestion and edema of the colorectal mucosa with mucosal erythema.
case_images: DEO2-5-e70023-g001.jpg
case_images: PMC11430356_02_DEO2-5-e70023-g001.jpg
case_images: deo270023-fig-0001
case_images: At 1 year old, the patient underwent her first endoscopy, which revealed congestion, edema, and erythema of the duodenal bulb mucosa, along with chronic active inflammation in the rectal mucosa characterized by small vessel congestion and multifocal bleeding (Figure 1).
case_images: Endoscopic images of the patient at 14 months old. (a-d) Congestion and edema of the colorectal mucosa with erythema and erosion, more densely distributed in the rectum (d).
case_images: DEO2-5-e70023-g002.jpg
case_images: PMC11430356_02_DEO2-5-e70023-g002.jpg
case_images: deo270023-fig-0002
case_images: Two months later, a second colonoscopy showed congested and edematous mucosa extending from the rectum to the ascending colon, with papular dense erythematous erosions and normal vascular patterns (Figure 2).
case_images: Endoscopic images of the patient at 19 months old. (a) Congestion and edema of the duodenal bulb mucosa. (b-d) Diffuse hyperemia, edema, erythema, erosion, and superficial ulcers observed from the distal ileum mucosa to the rectum.
case_images: DEO2-5-e70023-g004.jpg
case_images: PMC11430356_02_DEO2-5-e70023-g004.jpg
case_images: deo270023-fig-0003
case_images: Consequently, a third endoscopy was performed (Figure 3).
case_images: Hematoxylin and eosin staining showed that tumor cells were distributed in sheets and formed granuloma-like structures (a, x100); A typical Langerhans cell having eosinophilic cytoplasm, indistinct boundaries, vacuolated nuclei, and small nucleoli, was annotated by a white arrow (b, x400). Immunohistochemical staining showed that CD1a was strongly positive (c, x40), together with positive S-100 (d, x40).
case_images: DEO2-5-e70023-g003.jpg
case_images: PMC11430356_02_DEO2-5-e70023-g003.jpg
case_images: deo270023-fig-0004
case_images: Immunohistochemical staining was positive for CD1a, S-100, CD68, and CD163, and genetic testing confirmed the presence of a BRAF p.V600E mutation, supporting the diagnosis of GIT-LCH (Figure 4).