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Self-Assessment Questions

Pediatric Gastroenterology


Answer 5
  1. PJS. PJS, an autosomal dominant inherited disorder, is characterized by hyperpigmentation of the lips and buccal mucosa and is associated with the development of hamartomatous polyps in the gastrointestinal tract, most notably in the small intestine. The polyps form a starting point for intussusception and thus obstruction. Sporadic polyps of this size would be extremely rare and would be unlikely to be hamartomatous. Hereditary nonpolyposis colon cancer syndrome is a condition whereby individuals are at increased risk for a variety of malignancies (most notably colon cancer). Celiac sprue (also known as gluten-sensitive enteropathy) is a malabsorptive disorder and is not associated with hamartomatous polyps. Familial adenomatous polyposis syndrome is a disorder characterized by innumerable large intestinal polyps that, if not treated by colectomy, universally leads to colorectal cancer.

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