Peutz-Jeghers Syndrome: An outline on Diagnosis and Management

Peutz-Jeghers Syndrome (PJS) is a rare inherited autosomal dominant disorder characterized by pigmented mucocutaneous melanotic macules and hamartomatous polyps. PJS arises due to mutations in STK11 gene located on chromosome 19q 13.3 and predisposes the patients to a multitude of malignancies with an estimated cumulative risk of 81% - 93%. Breast, gastrointestinal tract, pancreas, reproductive system and lung are common sites of development of malignancies in these patients. Anemia, rectal bleeding, abdominal pain, obstruction and intussusception are the usual complications in patients with PJS leading to multiple interventions. Upper GI endoscopy and Double Balloon Enteroscopy (DBE) allows screening of the gastrointestinal tract. Polypectomy of hamartomas more than 1 cm carried out at the time of surveillance endoscopy, abates the complications like bleeding, obstruction and intussusception. When DBE is not feasible, intraoperative endoscopy (IOE) is helpful to evaluate the entire gastrointestinal tract during surgery. IOE is also crucial for removal of all small intestinal polyps. Imaging techniques like magnetic resonance enterography and computed tomography enterography and video capsule endoscopy are non-invasive options for evaluation and screening in these patients. Sixty eight percent of the patients require emergency surgery during their lifetime. Regular cancer screening protocols should be instituted for early detection of malignancies. Genetic counseling and screening of other first degree family members helps in their preemptive identification and management. Chemoprevention using mTOR inhibitors, COX-2 inhibitors could be helpful in polyp reduction.

A Case of Crohn's Disease Accompanied by Peutz-Jeghers Syndrome / 대한소화기학회지

Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by multiple gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Peutz-Jeghers syndrome has an incidence of approximately 1 in 25,000 to 300,000 births. Crohn's disease is a chronic inflammatory bowel disease that typically manifests as regional enteritis with its incidence ranging from 3.1 to 14.6 cases per 100,000 person-years in North America. Herein, we report a case of a 30-year-old male patient who had both Peutz-Jeghers syndrome and Crohn's disease. We believe that this is the first case in Korea and the second report in the English literatures on Peutz-Jeghers syndrome coincidentally accompanied by Crohn's disease.

Intususcepción intestinal en adultos por lesiones benignas / Intestinal intussusception due to benign lesions in adults

La intususcepción intestinal en una patología infrecuente en el adulto. En este documento describimos dos casos de presentación quirúrgica aguda caracterizada por dolor abdominal, masa y síntomas obstructivos; uno de ellos en una mujer de 18 años con una intususcepción yeyuno-yeyunal secundaria a un pólipo hamartomatoso, y otro, en una mujer de 40 años con un lipoma submucoso del colon descendente que producía intususcepción colocolónica.

Intestinal intussusception in adults occurs infrequently. In this study we describe two cases of acute surgical events characterized by abdominal pain, masses and obstructive symptoms. One of these cases occurred in an 18 year old woman with jejuno-jejunal intussusceptions due to a hamartomatous polyp. The other case was a 40 year woman with a colo-colonic intussusception due to a submucosal lipoma in the descending colon.

A Case of Hamartomatous Polyp without Peutz-Jeghers Syndrome Arising from Appendix / 대한소화기내시경학회지

Peutz-Jeghers syndrome is a familial syndrome consisting of mucocutaneous pigmentation and gastrointestinal polyposis and appears to be inherited as a single pleiotropic autosomal dominant gene with variable and incomplete penetrance. Cases of hamartomatous polyps of the Peutz-Jeghers type without Peutz-Jeghers syndrome have only rarely been reported. Moreover, only one case of a Peutz-Jeghers polyp at the appendix has been reported; it was resected by appendectomy. We report here on a case of a 45 year old man who had a hamartomatous polyp of the Peutz-Jeghers type arising from the appendix. The polyp was successfully removed by endoscopic polypectomy. To our knowledge, this is the first case of a hamartomatous polyp of the Peutz-Jeghers type that originated from the appendix and that was resected endoscopically.

Four Cases of Gastric Hamartomatous Polyps without Polyposis Coli / 대한소화기내시경학회지

Hamartoma is a very rare congenital tumor. A few cases of hamartomatous pol yps in the stomach were reported. Most of harrurtomatous polyps in the stomach occur in patients of polyposis coli. We have experienced four cases of gastric hamartomatous polyps without polyposis coli. There are some differences between previously reported cases and ours. In our casee, the distribution of age is from fourth to ninth decade, men and women ratio is 1: 1. The number of polyps are one in three cases and two in one case. The size of polyps is from 5mm to 12 mm. The location of polyps are various, but most common in antrum. We have experienced four cases which were different from previously reported ones and report them with a brief review of literatures.

Four Cases of Gastric Hamartomatous Polyps without Polyposis Coli / 대한소화기내시경학회지

Hamartoma is a very rare congenital tumor. A few cases of hamartomatous pol yps in the stomach were reported. Most of harrurtomatous polyps in the stomach occur in patients of polyposis coli. We have experienced four cases of gastric hamartomatous polyps without polyposis coli. There are some differences between previously reported cases and ours. In our casee, the distribution of age is from fourth to ninth decade, men and women ratio is 1: 1. The number of polyps are one in three cases and two in one case. The size of polyps is from 5mm to 12 mm. The location of polyps are various, but most common in antrum. We have experienced four cases which were different from previously reported ones and report them with a brief review of literatures.