Maggie Cheung, MD1, Yousef Elfanagely, MD1, Kevin Skole, MD2
1Robert Wood Johnson Medical School, Rutgers University, New Brunswick, NJ; 2University Medical Center of Princeton at Plainsboro, Plainsboro Township, NJ
Introduction: Heterotopic mucosa refers to the presence of normal tissue at a foreign site, and is thought to be either congenital from an error during organogenesis or metaplastic from an error during differentiation of pluripotent cells. We present a rare case of pancreatic and sebaceous gland heterotopia in the esophagus and gastric mucosal heterotopia in the rectum. To our knowledge, this is the first case with three types of heterotopia found in a single patient.
Case Description/Methods: A 61-year-old man with GERD presented with periodic dysphagia to solids. He denied regurgitation, heartburn, melena, hematochezia, constipation, and diarrhea. Physical exam was unremarkable. Barium swallow showed a small hiatal hernia, and mild concentric narrowing at the GE junction. EGD showed a low grade Schatzki ring and diffuse beige 2-3 mm specks in middle third of esophagus. A colonoscopy was also scheduled for screening purposes and showed a 20 mm semi-sessile polyp in the rectum. Biopsies identified focal pancreatic and sebaceous gland heterotopia in the esophagus and gastric fundus heterotopia in the rectum.
Discussion: Heterotopic pancreatic, sebaceous, and gastric mucosa have been described along the entire GI tract. Our literature review identified 11 case reports of pancreatic heterotopia in the esophagus, 23 case reports of heterotopic sebaceous glands in the esophagus, and 73 case reports of gastric heterotopia in the rectum. However, no case reports found a single patient with all three types of heterotopia. In all three types, there was a male predominance, and ages ranged from birth to 6th decade of life. The origin of the heterotopic tissues is hypothesized to be either congenital vs metaplastic. As the combination of organ heterotopia described here includes components of mesoderm and endoderm, there was presumably incomplete cellular differentiation in weeks 2-3 of embryonic development. Patients can be asymptomatic or present with dysphagia, epigastric pain, or reflux with heterotopic pancreatic mucosa and sebaceous glands in the esophagus, and hematochezia with heterotopic gastric mucosa in the rectum. Treatment for the heterotopic tissues vary but surgical or endoscopic resection is typically pursued. Given that the tissue is often removed, it is unclear the malignant potential of the lesions and close follow up is necessary. Ultimately, presentations such as hematochezia and dysphagia may have rare etiologies and necessitates sufficient biopsies.
Citation: Maggie Cheung, MD; Yousef Elfanagely, MD; Kevin Skole, MD. P1209 - HETEROTOPIC PANCREATIC, SEBACEOUS, AND GASTRIC TISSUE: REPORT OF CASE AND REVIEW OF THE LITERATURE. Program No. P1209. ACG 2019 Annual Scientific Meeting Abstracts. San Antonio, Texas: American College of Gastroenterology.