No abstract available.
Peutz-Jeghers Syndrome*

No abstract available.
Peutz-Jeghers Syndrome*

No abstract available.
Intussusception* ; Peutz-Jeghers Syndrome*

No abstract available.
Peutz-Jeghers Syndrome*

No abstract available.
Intussusception* ; Peutz-Jeghers Syndrome*

No abstract available.
Peutz-Jeghers Syndrome*

Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by hamartomatous polyps in the small bowel and mucocutaneous pigmentation. Patients with Peutz-Jeghers syndrome often present as surgical emergencies with complications of the polyps, such as intussusception, bowel obstruction and bleeding. Furthermore, repeated operations may be needed in some patients, which may result in short bowel syndrome. Although early reports did not demonstrate a predisposition to cancer in patients with this syndrome, more recent studies have described an increased risk for both gastrointestinal and extra-gastrointestinal cancers. Women with the Peutz-Jeghers syndrome have the extremely high risk for breast and gynecologic cancer. Recently, Peutz-Jeghers syndrome susceptibility gene, encoding the serine threonine kinase STK11 (also called LKB1), was identified in families with Peutz-Jeghers syndrome. The identifications of germline mutations in families with Peutz-Jeghers syndrome could be a turning point in the management of Peutz-Jeghers syndrome.
Female ; Human ; Neoplasms/etiology ; Peutz-Jeghers Syndrome*/pathology ; Peutz-Jeghers Syndrome*/genetics ; Peutz-Jeghers Syndrome*/complications ; Phenotype ; Risk Factors

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.
Appendectomy ; Appendix ; Genes, Dominant ; Penetrance ; Peutz-Jeghers Syndrome ; Pigmentation ; Polyps

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.
Gastrointestinal Tract ; Humans ; Peutz-Jeghers Syndrome ; Pigmentation ; Polyps ; Rectum

Peutz-Jeghers syndrome(PJS) is a relatively rare autosomal-dominant disease characterized by the occurrence of extensive mucocutaneous hyperpigmentation and gastrointestinal polyps. PJS patients are considered to have a high prevalence of intussusception due to polyps. We report the radiological findings in two cases of intussusception due to polyps in patients with PJS, and review the literature.
Humans ; Hyperpigmentation ; Intussusception* ; Peutz-Jeghers Syndrome* ; Polyps ; Prevalence