Skin tumours: Muir-Torre 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 · Skin tumours: Muir-Torre syndrome

Sample item

A 55-year-old man with a colorectal carcinoma has multiple sebaceous adenomas and a sebaceous carcinoma of the eyelid. Which genetic defect is expected?

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

The answer and the reasoning

B. DNA mismatch repair gene mutation such as MSH2

Muir-Torre syndrome is a variant of Lynch syndrome with sebaceous neoplasms and visceral malignancy, usually colorectal, due to mismatch repair gene mutations such as MSH2 or MLH1. Sebaceous tumours prompt screening for microsatellite instability. Colonoscopy surveillance is needed.

Option by option

  • A. FLCN mutation

    FLCN mutation causes Birt-Hogg-Dube syndrome.

  • B. DNA mismatch repair gene mutation such as MSH2 (correct)

    Correct. Mismatch repair defects cause Muir-Torre syndrome.

  • C. PTEN mutation

    PTEN mutation causes Cowden syndrome.

  • D. CYLD mutation

    CYLD mutation causes Brooke-Spiegler 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 B, DNA mismatch repair gene mutation such as MSH2. Muir-Torre syndrome is a variant of Lynch syndrome with sebaceous neoplasms and visceral malignancy, usually colorectal, due to mismatch repair gene mutations such as MSH2 or MLH1.

Why is "FLCN mutation" not the answer?

FLCN mutation causes Birt-Hogg-Dube syndrome.

Why is "PTEN mutation" not the answer?

PTEN mutation causes Cowden syndrome.

Why is "CYLD mutation" not the answer?

CYLD mutation causes Brooke-Spiegler syndrome.

What concept does this question test?

It tests Skin tumours: Muir-Torre syndrome in Dermatology. Sebaceous tumours prompt screening for microsatellite instability. Colonoscopy surveillance is needed.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. 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 Skin tumours: Muir-Torre 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.