Bullous disorders: epidermolysis bullosa simplex: 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 · Bullous disorders: epidermolysis bullosa simplex

Sample item

A newborn has blisters on the hands and feet developing after friction, healing without scarring. Intraepidermal cleavage through basal keratinocytes is shown. Which gene pair is most often mutated?

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

The answer and the reasoning

B. Keratin 5 and keratin 14

Epidermolysis bullosa simplex is usually autosomal dominant and caused by mutations in keratin 5 or 14, which weakens basal cell cytoskeleton, so cells lyse after trauma. Junctional and dystrophic types are caused by laminin and collagen VII defects.

Option by option

  • A. Collagen VII

    Collagen VII mutation gives dystrophic EB with scarring.

  • B. Keratin 5 and keratin 14 (correct)

    Correct. K5/K14 defects give intraepidermal blistering.

  • C. Plectin only

    Plectin mutations cause EB with muscular dystrophy and are less common.

  • D. Laminin 332

    Laminin 332 mutation gives junctional EB.

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, Keratin 5 and keratin 14. Epidermolysis bullosa simplex is usually autosomal dominant and caused by mutations in keratin 5 or 14, which weakens basal cell cytoskeleton, so cells lyse after trauma.

Why is "Collagen VII" not the answer?

Collagen VII mutation gives dystrophic EB with scarring.

Why is "Plectin only" not the answer?

Plectin mutations cause EB with muscular dystrophy and are less common.

Why is "Laminin 332" not the answer?

Laminin 332 mutation gives junctional EB.

What concept does this question test?

It tests Bullous disorders: epidermolysis bullosa simplex in Dermatology. Junctional and dystrophic types are caused by laminin and collagen VII defects.

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 Bullous disorders: epidermolysis bullosa simplex?

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.