Genodermatoses: Hailey-Hailey disease: 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 · Genodermatoses: Hailey-Hailey disease

Sample item

A man has recurrent painful, malodorous, macerated erosions of the axillae and groin from childhood, with family history, and histology shows widespread acantholysis giving a dilapidated brick wall appearance. Which gene is mutated?

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

The answer and the reasoning

D. ATP2C1

Hailey-Hailey disease (benign familial chronic pemphigus) is an autosomal dominant disorder of the Golgi calcium pump encoded by ATP2C1. Darier disease involves the endoplasmic reticulum pump ATP2A2.

Option by option

  • A. Desmoglein 1

    Desmoglein 1 antibodies cause pemphigus foliaceus.

  • B. COL7A1

    COL7A1 mutations cause dystrophic epidermolysis bullosa.

  • C. ATP2A2

    ATP2A2 mutations cause Darier disease.

  • D. ATP2C1 (correct)

    Correct. ATP2C1 mutations cause Hailey-Hailey disease.

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, ATP2C1. Hailey-Hailey disease (benign familial chronic pemphigus) is an autosomal dominant disorder of the Golgi calcium pump encoded by ATP2C1.

Why is "Desmoglein 1" not the answer?

Desmoglein 1 antibodies cause pemphigus foliaceus.

Why is "COL7A1" not the answer?

COL7A1 mutations cause dystrophic epidermolysis bullosa.

Why is "ATP2A2" not the answer?

ATP2A2 mutations cause Darier disease.

What concept does this question test?

It tests Genodermatoses: Hailey-Hailey disease in Dermatology. Darier disease involves the endoplasmic reticulum pump ATP2A2.

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 Genodermatoses: Hailey-Hailey disease?

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.