Induruwa Pathirana, MD, Ryan O'Keefe, MD
Dwight D. Eisenhower Army Medical Center, Fort Gordon, GA
Introduction: Polyposis syndromes are rare and often undiagnosed or misdiagnosed in clinical practice. Presented here is a case of Cowden syndrome initially misdiagnosed as an atypical presentation of ulcerative colitis.
Case Description/Methods: A 62-year-old male presented to the gastroenterology clinic for routine annual surveillance colonoscopy. He had undergone numerous colonoscopies for the past decade demonstrating pseudopolyps throughout the colon. Pathology revealed normal colonic mucosa, hyperplastic features, and inflammatory polyps. He denied a history of diarrhea or hematochezia, or a family history of inflammatory bowel disease. The patient was ultimately diagnosed with ulcerative colitis, placed on oral mesalamine treatment, and advised to undergo annual colonoscopy for dysplasia surveillance.
On the date of encounter a thyroidectomy scar was noted on physical exam. The patient had undergone total thyroidectomy in the 1990’s for an unknown reason. Chronic lesions resembling papillomas were present on his buccal mucosa. Although he did not have a formal diagnosis of autism, the patient displayed several characteristics of the disorder throughout the encounter. The patient’s son had also been diagnosed with numerous non-adenomatous colon polyps and his father had passed from renal cell carcinoma. Given clinical suspicion for Cowden syndrome, an upper endoscopy was added to the annual colonoscopy demonstrating significant esophageal glycogenic acanthosis and extensive duodenal hamartomas. Colonoscopy again demonstrated numerous hamartomas throughout the colon.
Genetic sequencing demonstrating a frame shift mutation in the PTEN gene was performed by Athena Diagnostics, diagnostic of Cowden syndrome. Subsequently his mesalamine was discontinued, his colonoscopy surveillance interval was increased to every five years, and annual screening for renal cell carcinoma screening was initiated. His son was advised to undergo genetic testing as well due to the syndrome’s autosomal dominant inheritance pattern.
Discussion: This case showcases the utility of highlighting rare clinical entities. The prevalence of Cowden syndrome is estimated to be only 1 in 200,000 to 250,000 individuals. Clinicians are proficient at diagnosing more common disease presentations; however, rare disorders such as polyposis syndromes can be unrecognized unless they are consistently reviewed outside of daily practice.
Citation: Induruwa Pathirana, MD, Ryan O'Keefe, MD. P0375 - NOT THE AVERAGE PSEUDOPOLYP. Program No. P0375. ACG 2019 Annual Scientific Meeting Abstracts. San Antonio, Texas: American College of Gastroenterology.