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General Surgery · Gastrointestinal surgery: Gardner syndrome
Sample itemA 22-year-old man has hundreds of colonic adenomas, a mandibular osteoma and multiple epidermoid cysts of the skin. His father had a similar picture. Which syndrome is this?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Gardner syndrome
Gardner syndrome is a variant of familial adenomatous polyposis (APC mutation) with extracolonic features: osteomas, epidermoid cysts, desmoid tumours and congenital hypertrophy of the retinal pigment epithelium. Prophylactic colectomy is advised because cancer risk approaches 100 percent.
Option by option
A. Gardner syndrome (correct)
Correct. Polyposis with osteomas and epidermoid cysts defines Gardner syndrome.
B. Turcot syndrome
Turcot syndrome pairs colonic polyposis with central nervous system tumours such as medulloblastoma or glioma.
C. Cowden syndrome
Cowden syndrome causes hamartomas with trichilemmomas and breast and thyroid cancer risk.
D. Peutz-Jeghers syndrome
Peutz-Jeghers syndrome has hamartomatous polyps and mucocutaneous pigmentation, not adenomas and osteomas.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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