Identify the correct inherited gastrointestinal syndrome that corresponds to each set of clinical findings.
- Innumerable colonic adenomatous polyps and a near 100% risk of colorectal cancer by age 40.Familial adenomatous polyposis (FAP)
- Hamartomatous gastrointestinal polyps accompanied by dark blue or brown mucocutaneous macules on the lips.Peutz-Jeghers syndrome
- Early-onset colorectal, endometrial, and ovarian cancers with few or no antecedent colonic polyps.Lynch syndrome
- Multiple gastrointestinal hamartomas presenting alongside a markedly increased risk of breast and thyroid malignancies.Cowden syndrome
Cevap
The first clinical description matches Familial adenomatous polyposis, the second matches Peutz-Jeghers syndrome, the third matches Lynch syndrome, and the fourth matches Cowden syndrome.
Each clinical description highlights the hallmark phenotypic features of a major inherited gastrointestinal syndrome. Familial adenomatous polyposis features florid adenomatous polyposis. Peutz-Jeghers syndrome is marked by mucocutaneous pigmentation. Lynch syndrome is characterized by early-onset colon and endometrial cancers without extensive polyposis. Cowden syndrome uniquely associates gastrointestinal hamartomas with thyroid and breast malignancies.
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Anahtar Kavram
Inherited gastrointestinal polyposis and cancer syndromes