Vesiculobullous disorders: junctional epidermolysis bullosa with pyloric atresia: 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 · Vesiculobullous disorders: junctional epidermolysis bullosa with pyloric atresia

Sample item

A newborn has widespread skin erosions and persistent projectile non-bilious vomiting, and imaging shows pyloric atresia. Which hemidesmosomal protein defect is the likely cause?

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

The answer and the reasoning

B. Integrin alpha-6 beta-4

Junctional EB with pyloric atresia arises from mutations in integrin alpha-6 beta-4, a hemidesmosome component expressed in skin and gut epithelium. It causes severe neonatal blistering and has a poor prognosis.

Option by option

  • A. Desmoplakin

    Desmoplakin defects affect desmosomes and cause skin fragility with cardiomyopathy syndromes.

  • B. Integrin alpha-6 beta-4 (correct)

    Correct. Integrin alpha-6 beta-4 defects cause junctional EB with pyloric atresia.

  • C. Keratin 5

    Keratin 5 defects cause EB simplex, with intraepidermal splitting and no gut atresia.

  • D. Type VII collagen

    Type VII collagen defects cause dystrophic EB, with scarring and milia.

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, Integrin alpha-6 beta-4. Junctional EB with pyloric atresia arises from mutations in integrin alpha-6 beta-4, a hemidesmosome component expressed in skin and gut epithelium.

Why is "Desmoplakin" not the answer?

Desmoplakin defects affect desmosomes and cause skin fragility with cardiomyopathy syndromes.

Why is "Keratin 5" not the answer?

Keratin 5 defects cause EB simplex, with intraepidermal splitting and no gut atresia.

Why is "Type VII collagen" not the answer?

Type VII collagen defects cause dystrophic EB, with scarring and milia.

What concept does this question test?

It tests Vesiculobullous disorders: junctional epidermolysis bullosa with pyloric atresia in Dermatology. It causes severe neonatal blistering and has a poor prognosis.

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 Vesiculobullous disorders: junctional epidermolysis bullosa with pyloric atresia?

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.