Pigmentary disorders: Rothmund-Thomson 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: Rothmund-Thomson syndrome

Sample item

An infant develops facial erythema that evolves into poikiloderma on the face and limbs. Later there are sparse hair, juvenile cataracts, short stature and an osteosarcoma of the femur. Which gene is mutated?

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

The answer and the reasoning

C. RECQL4

Rothmund-Thomson syndrome is an autosomal recessive poikiloderma with cataracts and a risk of osteosarcoma, caused by RECQL4 helicase mutations. Sun protection and cancer surveillance are needed.

Option by option

  • A. BLM

    BLM mutations cause Bloom syndrome, with sun-sensitive facial telangiectatic erythema and short stature but not cataracts and bone tumours.

  • B. WRN

    WRN mutations cause Werner syndrome, with premature ageing in adulthood.

  • C. RECQL4 (correct)

    Correct. RECQL4 mutations cause Rothmund-Thomson syndrome.

  • D. XPA

    XPA mutations cause xeroderma pigmentosum, with freckling and skin cancers.

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, RECQL4. Rothmund-Thomson syndrome is an autosomal recessive poikiloderma with cataracts and a risk of osteosarcoma, caused by RECQL4 helicase mutations.

Why is "BLM" not the answer?

BLM mutations cause Bloom syndrome, with sun-sensitive facial telangiectatic erythema and short stature but not cataracts and bone tumours.

Why is "WRN" not the answer?

WRN mutations cause Werner syndrome, with premature ageing in adulthood.

Why is "XPA" not the answer?

XPA mutations cause xeroderma pigmentosum, with freckling and skin cancers.

What concept does this question test?

It tests Pigmentary disorders: Rothmund-Thomson syndrome in Dermatology. Sun protection and cancer surveillance are 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 Pigmentary disorders: Rothmund-Thomson 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.