Pigmentary disorders: Peutz-Jeghers syndrome: practice question

A Dermatology question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Dermatology · Pigmentary disorders: Peutz-Jeghers syndrome

Sample item

A child has dark brown macules on the lips and buccal mucosa with recurrent intussusception from intestinal polyps. Which gene is mutated?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

C. STK11 (LKB1)

Peutz-Jeghers syndrome is autosomal dominant with STK11 mutations, causing mucocutaneous macules and hamartomatous polyps with increased risk of gastrointestinal and other cancers. Surveillance is advised.

Option by option

  • A. APC

    APC mutation causes familial adenomatous polyposis.

  • B. MEN1

    MEN1 mutation causes multiple endocrine neoplasia type 1.

  • C. STK11 (LKB1) (correct)

    Correct. STK11 mutation causes this syndrome.

  • D. PTEN

    PTEN mutation causes Cowden syndrome.

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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Questions about this Dermatology question

What is the answer to this Dermatology question?

The best answer is C, STK11 (LKB1). Peutz-Jeghers syndrome is autosomal dominant with STK11 mutations, causing mucocutaneous macules and hamartomatous polyps with increased risk of gastrointestinal and other cancers.

Why is "APC" not the answer?

APC mutation causes familial adenomatous polyposis.

Why is "MEN1" not the answer?

MEN1 mutation causes multiple endocrine neoplasia type 1.

Why is "PTEN" not the answer?

PTEN mutation causes Cowden syndrome.

What concept does this question test?

It tests Pigmentary disorders: Peutz-Jeghers syndrome in Dermatology. Surveillance is advised.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Pigmentary disorders: Peutz-Jeghers syndrome?

Learn each condition by its primary lesion, site and signature sign. Then use the flashcards and the other Dermatology questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.