Clinical Endoscopy

Two Cases of a Solitary Peutz-Jeghers Polyp in the Rectum: Il Young You, M.D., Sei Jin Youn, M.D., Won Joong Jeon, M.D., Byeongseong Ko, M.D., Hee Bok Chae, M.D., Seon Mee Park, M.D. and Ho-chang Lee, M.D.*; Korean J Gastrointest Endosc 2008;36(2):107-111. Published online February 27, 2008

Abstract PDF: Peutz-Jeghers syndrome is a rare autosomal dominant disorder in which multiple hamartomatous polyps are present in the gastrointestinal tract in association with distinctive mucocutaneous pigmentation. A single hamartomatous polyp arising in a patient without pigmentation or familial history of Peutz-Jeghers syndrome is termed a solitary Peutz-Jeghers polyp; such a case is rare and would result in a case report being presented even in other countries. We experienced two cases of a solitary Peutz-Jeghers polyp that developed in the rectum, and report the cases with a review of the literature. (Korean J Gastrointest Endosc 2008;36:107-111)

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Solitary Peutz-Jeghers Polyp of the Colon: Seok Jeong, M.D., In Suh Park, M.D.*, Yong Sun Jeon, M.D.^†, Jin-Woo Lee, M.D., Jung Il Lee, M.D., Kye Sook Kwon, M.D., Don Haeng Lee, M.D., Pum-Soo Kim, M.D., Hyung Gil Kim, M.D., Yong Woon Shin, M.D. and Young Soo Kim, M.D.; Korean J Gastrointest Endosc 2005;30(4):222-225. Published online April 30, 2005

Abstract PDF: Peutz-Jeghers syndrome is an autosomal-dominant inherited disorder characterized by polyposis of the alimentary tract, the abnormal mucocutaneous pigmentation, and family history of Peutz-Jeghers syndrome. A single Peutz- Jeghers polyp arising in a patient without pigmentation and family history of Peutz-Jeghers syndrome is termed a solitary or isolated hamartomatous polyp of Peutz-Jeghers type. These solitary polyps are found most frequently in the small intestine but also occur in the large bowel and stomach as well. In a healthy 48-year-old man, a single large polyp was found incidentally in the ascending colon during colonoscopy and treated by snare polypectomy. Microscopic exam of the resected specimen revealed the features of hamartomatous polyp of Peutz- Jeghers type. There was no evidence of other polyps on esophagogastroduodenoscopy and small bowel series. We report a patient with solitary Peutz-Jeghers polyp of the colon, who had no stigmata associated with Peutz-Jeghers syndrome. (Korean J Gastrointest Endosc 2005;30:222⁣225)

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63세 여자, 좌상복부 종물과 불쾌감: Korean J Gastrointest Endosc 2003;26(5):388-388. Published online May 30, 2003

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고립성 직장 궤양 증후군 1 예 ( A Case of Solitary Rectal Ulcer Syndrome ): Korean J Gastrointest Endosc 2000;21(3):750-755. Published online November 30, 1999

Abstract PDF: Although solitary rectal ulcer syndrome (SRUS) has a characteristic pathologic findings on biopsy specimen, the diagnosis of which often is delayed because this syndrome is easily mistaken for rectal cancer, inflammatory bowel diseases or other forms of proctitis. The mucosal prolapse syndrome has been widely accepted because presence of rectal ulcer is multiple or absent, and this syndrome include related disorder like as colitis cystica profunda. Proctosigmoidoscopy can show variable lesion to differentiate SRUS, which has abnormal gross findings from ulcerative lesions to polypoid lesion, mild proctitis, thickened nodular folds. Endoscopic transrectal ultrasonography (ETUS) has been known to useful procedure to staging and follow up of anorectal carcinoma. ETUS could clearly delineate the rectal wall and its separate layers, and mucosal ulcers or changes in the rectal wall architecture. A 49-year-old female complained of rectal bleeding, mucoid stool and excessive straining with rectal pain. Proctosigmoidoscopic finding revealed irregular rectal ulcers mimicking malignancy. SRUS was diagnosed based on clinical symptom, rectal biopsy and ETUS.

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십이지장 결핵: Korean J Gastrointest Endosc 2000;20(5):394-394. Published online November 30, 1999

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상부 위장관 출혈로 내원한 십이지장의 단발성 Peutz-Jeghers형 과오종성 용종 1예 ( A Case of a Solitary Peutz-Jeghers Type Hamartomatous Polyp in the Duodenum with Upper Gastrointestinal Bleeding as the Initial Diagnosis ): Korean J Gastrointest Endosc 1999;19(5):796-800. Published online November 30, 1998

Abstract PDF: Peutz-Jeghers syndrome is a genetic disorder consisting of mucocutaneous pigmentation and gastrointestinal polyposis. Although the polyp may be found in a solitary fashion in this syndrome, such a case is exceedingly rare and would result in a case report even in other countries. A solitary Peutz-Jeghers polyp had not been reported domestically until now, and thereby, the authors here present a case of a clinical experience of Peutz-Jeghers syndrome with a solitary hamartomatous polyp in the duodenum. (Korean J Gastrointest Endosc 19: 796∼800, 1999)

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고립성 직장 궤양 증후군의 진단과 치료에 대한 문제점에 관한 검토 (Clinical Pitfalls in the Diagnosis and Treatment of Solitary Rectal Ulcer Syndrome ): Korean J Gastrointest Endosc 1999;19(2):221-234. Published online November 30, 1998

Abstract PDF: Background
/Aim: Solitary rectal ulcer syndrome (SRUS) is a rare disease, but it is encountered in the colorectal field. SRUS is usually associated with defecation disorders such as puborectalis dysfunction, rectal occult or overt prolapse, descending perineum syndrome, and so forth. Without knowledge about SRUS, the lesion could be easily overlooked or misdiagnosed. The histologic characteristics of SRUS are fibromuscular obliteration in the lamina propria and/or misplaced mucin-filled cysts below the muscularis mucosae, this latter condition being commonly referred to as colitis cystica profunda. However, these characteristics, even though they exist, are often missed in the initial biopsy specimens from SRUS patients, leading to misdiagnoses which cause delayed diag-nosis and treatment. In spite of the incomplete histologic indications, a careful and con-scientious clinician, using clinical features and characteristic endoscopic findings, would not misdiagnose SRUS lesions. In other words, the clinical features and endoscopic find-ings are as important as, if not more important than, the histologic findings in the diag-nosis of SURS lesions. Methods: The authors reviewed and analyzed 18 recently experi-enced, biopsy-proven cases of SRUS with emphasis on gross classification and initial pathologic misdiagnoses. Results: The most common age groups were the 5th and the 6th decades with a mean age of 46.5. The male-to-female ratio was 1.6 ：1. The most common symptoms were mucous discharge and defecation difficulty. All lesions involvedthe rectum, and the lower rectum was the most common site. Four diffuse-type lesions showed an extensive involvement up to the sigmoid colon. The most common form of SRUS was the elevated type (44.4%). The ulcerated type accounted for 27.8% of the cases and the flat type, 22.2%. Circumferential involvement of the SRUS was noticed in 3 cases. In 9 cases (50%), pathologic findings missed the characteristics of SRUS and indicated one or a combination of chronic nonspecific inflammation, a chronic ulcer, an inflam-matory polyp, an adenomatous polyp, pseudomembranous colitis, and adenocarcinoma. In three of these cases, a second biopsy was taken with the same results. Based on the clinician' s belief that SRUS was the cause of the lesions, all nine cases were reviewed by the pathologist and a final diagnosis of SRUS was reached. Associated disorders were hemorrhoids, rectoceles, rectal prolapse, perianal fistulas, descending perineum syndrome, and anal fissures. Among them, hemorrhoids and rectoceles were the most common disorders. Four SRUS cases were managed surgically with good results. The surgical treatment was an excision of the lesion itself and/or the correction of the associated disorders. Conclusions: The histologic characteristics of SRUS are the key to diagnosis, but sufficiently large biopsy specimens are necessary in order to obtain the correct diagnosis. However, the clinical features, including symptoms and associated disorders, plus the characteristic endoscopic findings can produce the correct diagnosis even in cases of insufficiently large biopsy samples or incomplete histologic reports. (Korean J Gas-trointest Endosc 19: 221 ∼234, 1999)

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