Papulosquamous disorders: epidermolytic hyperkeratosis: 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 · Papulosquamous disorders: epidermolytic hyperkeratosis

Sample item

A newborn has generalised erythema and blisters. Over years, warty corrugated hyperkeratosis develops in the flexures. Biopsy shows vacuolar degeneration of the suprabasal keratinocytes with clumped keratohyalin granules. Which genes are affected?

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

The answer and the reasoning

D. KRT1 and KRT10

Epidermolytic hyperkeratosis is caused by mutations in the suprabasal keratins 1 and 10. Histology shows epidermolytic change with clumped keratohyalin.

Option by option

  • A. TGM1

    TGM1 mutations cause lamellar ichthyosis with a collodion membrane.

  • B. FLG

    FLG mutations cause ichthyosis vulgaris with fine scaling and atopy.

  • C. KRT5 and KRT14

    KRT5 and KRT14 act in the basal layer and cause epidermolysis bullosa simplex.

  • D. KRT1 and KRT10 (correct)

    Correct. Keratin 1 and 10 mutations cause epidermolytic hyperkeratosis.

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 D, KRT1 and KRT10. Epidermolytic hyperkeratosis is caused by mutations in the suprabasal keratins 1 and 10.

Why is "TGM1" not the answer?

TGM1 mutations cause lamellar ichthyosis with a collodion membrane.

Why is "FLG" not the answer?

FLG mutations cause ichthyosis vulgaris with fine scaling and atopy.

Why is "KRT5 and KRT14" not the answer?

KRT5 and KRT14 act in the basal layer and cause epidermolysis bullosa simplex.

What concept does this question test?

It tests Papulosquamous disorders: epidermolytic hyperkeratosis in Dermatology. Histology shows epidermolytic change with clumped keratohyalin.

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 Papulosquamous disorders: epidermolytic hyperkeratosis?

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.