case_images: PMC10603229_01
case_images: Clinical images show the clinical manifestation of the patient. (A) Computerized abdomen tomography (CT) revealed the thickened intestinal wall of ileocecum and patchy blurred shadows around it. (B) Skin lesions on the soles of the patient's left foot. (C) Chest CT showed bronchiectasis in both lungs. (D) A huge ulcer with yellow pus moss on it of ascending colon on colonoscopy.
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case_images: Both abdominal ultrasound and computerized tomography (CT) revealed ileocecitis and a small volume of ascites ( Figure 1A ). Physical examination revealed a normal nutritional status, tenderness around the umbilicus and right lower abdomen on palpation, and skin lesions on the soles of the left foot ( Figure 1B ). Clostridium difficile gene Xpert assay. Chest CT showed bronchiectasis in both lungs ( Figure 1C ), and echocardiography revealed mild aortic valve regurgitation. He received a colonoscopy, during which a massive ulcer with yellow pus moss in the ascending colon was observed ( Figure 1D ).
case_images: Histological analysis of the mucous membrane of the colonic ulcer. (A, B) Diffuse lymphoid proliferation of medium-sized lymphocytes stained with hematoxylin-eosin (A) (x40), and (B) (x400). (C-E) Diffuse CD20 positive lymphoid infiltration (C) (x40), sporadically positive for Kappa-light chain (D) and negative for Lambda-light chain (E) on immunohistochemistry (x400). (F)
  In situ hybridization showed EBER positive for lymphoma tumor cells (x400).
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case_images: Diffuse proliferation of medium-sized lymphocytes was found in the biopsy from the ulcer ( Figures 2A, B ), the nuclei exhibit clear heterogeneity, appearing basophilic, with the presence of prominent large nucleoli. Kappa-light chain ( Figure 2D ), and negative for Lambda-light chain ( Figure 2E ). Ki-67 revealed a proliferative fraction of 60% of the cells. EBV-encoded mRNA (EBER) in situ hybridization was tested positive ( Figure 2F ), and acid-fast staining was negative.
case_images: Sanger sequences demonstrated compound heterozygous mutations of the DCLRE1C gene. (A) A paternal splicing donor mutation (c.109 + 2T>C) in intron1. (B) A maternal c.1147C>T (p.R383X) nonsense mutation in exon13 (NM_001033855.3).
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case_images: Sanger sequencing confirmed the carrying status of variants ( Figure 3 ).