Pediatric Polyposis Syndromes: Hamartomatous Polyposis Syndrome

Check out this week's Stay Current Short. Peutz-Jeghers syndrome is a slightly less common pathology, affecting one in 200,000 live births annually with a mutation in STK11. This syndrome has a characteristic buzzword and phenotype. It's mucocutaneous lesions. Predominantly, the lesion that you'll notice on their exam are their mucocutaneous lesions, and I'll show you some pictures. Um, but they have uh, developed GI hamartomatous polyps um, in the small bowel often more more so than in the colon. And a third of the patients will have symptoms from the polyps before 10 years of age. And 50% will have symptoms by before 20 years of age. And again, those symptoms as you'd expect are pain, bleeding, obstruction, anemia, um intussusception. That's Dr. Joseph Palermo. He's a pediatric gastroenterologist and a member of the multidisciplinary polyposis team at Cincinnati Children's Hospital. While the symptoms are from a GI source, the cancer risk can be outside the GI tract, and the lifetime risk is up to 90%. So screening for GI and extraintestinal cancers starts around three to five years old. And as I said, they get lots of tumors outside of the GI tract. Um, I think the one I've seen most often in pediatrics are the Sertoli cell tumors. Um, and I've had a couple kids who've had those. Um, but patients get older, obviously they have to have screening for breast, uh, ovarian, pancreatic, uh, tumors as well. Um, lung, there's no specific screening, but we need to know there's an increased risk for lung cancer, so they're um, uh, counseled not to smoke. Check out the full episode on YouTube, the Stay Current app, or SoundCloud. Find the links below.