Peutz-Jeghers syndrome

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Peutz-Jeghers syndrome


Peritoneum and peritoneal cavity disorders




Peutz-Jeghers syndrome


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Peutz-Jeghers syndrome

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USMLE® Step 1 style questions USMLE

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A 22-year-old woman comes to her physician for evaluation of intermittent constipation. The symptoms began several months ago. She often needs to strain during defecation and has occasionally noticed blood in her stool. The patient has no significant past medical history, but she states her father developed pancreatic cancer at a young age. Vital signs are within normal limits. Physical examination shows multiple, small, hyperpigmented macules on the buccal mucosa. Colonoscopy is performed and shows numerous polyps, with subsequent biopsy revealing hamartomatous mucosal polyps. This patient's diagnosis is most likely associated with which of the following conditions? 

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Peutz-Jeghers syndrome as cause p. 396

Peutz-Jeghers syndrome p. 225, 396


Peutz-Jeghers syndrome, named after Dr. Jan Peutz, who first described it, and Dr. Harold Joseph Jeghers, who later reported on it, is a rare autosomal dominant condition in which individuals develop polyps throughout their gastrointestinal tract, as well as dark spots called melanotic macules in their mouth, lips, genitalia, palms, and soles.

The large intestine is found in the abdominal cavity, which can be thought of as having two spaces - the intraperitoneal space and the retroperitoneal space.

The intraperitoneal space contains the first part of the duodenum, all of the small intestines, the transverse colon, sigmoid colon, and the rectum; the retroperitoneal space contains the distal duodenum, ascending colon, descending colon, and anal canal.

So the large intestines essentially weave back and forth between the intraperitoneal and retroperitoneal spaces.

Now, the walls of the gastrointestinal tract are composed of four layers.

The outermost layer is the called serosa for the intraperitoneal parts, and the adventitia for the retroperitoneal parts.

Next is the muscular layer, which contracts to move food through the bowel.

After that is the submucosa, which consists of a dense layer of tissue that contains blood vessels, lymphatics, and nerves.


Peutz-Jeghers syndrome (PJS), also known as hereditary intestinal polyposis syndrome, is an autosomal dominant disease characterized by polyps throughout the gastrointestinal tract, along with melanotic macules in the skin and mucosa, and a high risk of developing malignancy in various organs, including cancers of the GI tract, pancreas, breasts, lungs, ovaries, uterus, and testicles.

People with PJS have a higher risk of developing certain types of cancer, particularly in the colon, stomach, small intestine, pancreas, and breast. Regular surveillance and screening for these cancers are recommended for people with PJS. Treatment of PJS usually involves surgically removing the polyps, and regular surveillance with colonoscopies, upper endoscopies, and other imaging studies.


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  8. "Hamartomatous polyposis syndromes: A review" Orphanet Journal of Rare Diseases (2014)
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