Syndrome of the month Peutz-Jeghers syndrome
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چکیده
Peutz-Jeghers syndrome (PJS,MIM 175200) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. In addition to problems such as intussusception, PJS predisposes to cancers of several sites. The unusual combination of clinical features makes the identification of the defect underlying PJS particularly interesting. Recently, the PJS gene has been mapped to chromosome l9pl 3.3. (_Med Genet 1997;34:1007-1011)
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Peutz-Jeghers syndrome: a new understanding.
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 ...
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Patients with the Peutz-Jeghers syndrome carry a slight, though definite, increased risk of gastrointestinal carcinoma.The malignant potentiality of Peutz-Jeghers hamartomatous polyps, generally considered benign, is supported by this report. Two cases of metastasising gastrointestinal carcinoma associated with the Peutz-Jeghers syndrome are described in a 56 year old female and her 29 year old...
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