Link between mutations in ACVRL1 and PLA2G4A genes and chronic intestinal ulcers: A case report and review of literature

Figure 1 Sanger sequencing of the activin A receptor type II-like 1 and phospholipase A2 group IVA genes in patients. Het: Heterozygote; AD: Autosomal dominance inheritance; AR: Autosomal recessive inheritance.

Figure 2 Gastroscopy results. A: Esophagus; B: Gastric fundus; C: Gastric body; D: Gastric antrum; E: Duodenal bulb; F: Descending duodenum. No obvious abnormalities are seen in the morphology and color of the esophagus. The distance between the cardia and the incisor is about 40 cm, and the dentate line is clear. The gastric fundus does not show any obvious abnormalities in the mucosa and morphology, and there is a moderate amount of mucus and yellow turbidity. The gastric body's mucosa and morphology are also normal; the gastric angle is curved and smooth. The gastric antrum's mucosa is congested and edematous, but no ulcers or masses are present. The pylorus is circular in shape and can open and close smoothly. There are no obvious abnormalities in the duodenal bulb and descending mucosa.

Figure 3 Colonoscopy results. A: Distal ileum; B: Distal ileum; C: Distal ileum; D: Surgical repair site; E: Hepatic flexure; F: Anus. The distal ileal mucosa is congested and edematous, with visible erosion and scattered patchy ulcers, covered with white fur and distributed in segments. The surrounding mucosa is accompanied by pseudopolypoid hyperplasia, presenting as cobblestone-like changes. Local mucosal protrusions, ulcers, and nodular protrusions can be seen near the hepatic flexure of the transverse colon. Suspected formation of a sinus in the anus.

Figure 4 Pathology of intestinal mucosal tissue. A: Colon (a small amount of mucosal tissue and inflammatory exudative necrosis); B: Distal ileum (ulcer formation, large numbers of inflammatory exudates and granuloma formation, and large numbers of lymphocytic plasma cell infiltration).