case_images: PMC10658932_01
case_images: Genetic map of familial disease genes.
case_images: fonc-13-1157563-g001.jpg
case_images: PMC10658932_01_fonc-13-1157563-g001.jpg
case_images: f1
case_images: The family disease genetic map is shown in  Figure 1 .
case_images: (A, B) Neck-enhanced CT: (sagittal and coronal): The mucosa of the upper esophagus was thickened and enhanced to a length of 71 mm. (C) Esophageal barium swallowing test: severe stenosis of the horizontal lumen of the C6-C7 vertebral body in the upper esophagus. (D) Neck-enhanced CT: (axial): The mucosa of the posterior area of the cricoarytenoid joint showed annular enhancement.
case_images: fonc-13-1157563-g002.jpg
case_images: PMC10658932_01_fonc-13-1157563-g002.jpg
case_images: f2
case_images: D ), electronic fiber laryngoscopy, esophageal barium swallowing test ( Figure 2C ) and other examinations were performed. During gastroscopy, a very fine gastroscope could not be passed through the narrow esophagus.
case_images: (A) Esophagus swallowing iodine oil test on day 18 after surgery showed unobstructed anastomosis without leakage of contrast agent. (B) Barium swallow test 5 months after surgery: The contrast agent emptying time of larynx was delayed, and the esophageal lumen was good. (C) Esophago swallowing test 29 months after surgery: intestinal tubular shadow could be seen at the upper end of the esophagus, and the upper anastomosis was slightly narrow. (D) Gastroscopy 31 months after surgery: The upper edge of the anastomosis was 16 cm from the incisor, the mucosa was smooth, the lumen was slightly narrow, and the body of the ordinary gastroscope passed normally. The lower edge of the anastomosis was spacious. The mucosa of the esophageal lumen was smooth and without ulceration.
case_images: fonc-13-1157563-g003.jpg
case_images: PMC10658932_01_fonc-13-1157563-g003.jpg
case_images: f3
case_images: On day 18 after surgery, iodine oil swallowing test ( Figure 3A ) revealed no obvious leakage of contrast agent. However, the patient was given esophageal barium swallow examination ( Figure 3B ). The patient complained of obstruction when swallowing large pieces food 29 months after the operation, and was given esophageal barium swallowing test ( Figure 3C ). On 31 months after surgery, the patient underwent gastroscopy ( Figure 3D ).
case_images: Pathological esophagus pathology revealed separation of squamous epithelium separated from submucosal tissue in some areas of esophageal mucosa, ulcer formation, granulation tissue hyperplasia, and some glands with squamous metaplasia. (A) HE x200; (B) CK immunocytochemistry x200.
case_images: fonc-13-1157563-g004.jpg
case_images: PMC10658932_01_fonc-13-1157563-g004.jpg
case_images: f4
case_images: These results were consistent with the mucosal changes of RDEB patients ( Figures 4A, B ).