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Dentistry · Oral medicine: Peutz-Jeghers syndrome
Sample itemA child has dark macules on the lips and buccal mucosa and has had recurrent intussusception. Which condition and gene are involved?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Peutz-Jeghers syndrome, STK11
Peutz-Jeghers syndrome combines perioral and buccal mucocutaneous pigmentation with hamartomatous gastrointestinal polyps that cause intussusception. It results from STK11 mutation and raises cancer risk.
Option by option
A. Peutz-Jeghers syndrome, STK11 (correct)
Correct. Pigmented lips and polyps point to STK11.
B. Addison disease, CYP21A2
Addison disease causes diffuse pigmentation without polyps.
C. Gardner syndrome, APC
Gardner syndrome has adenomatous polyps, osteomas and desmoids.
D. Cowden syndrome, PTEN
Cowden syndrome shows trichilemmomas and papules.
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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