Papulosquamous disorders: lipoid proteinosis: 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: lipoid proteinosis

Sample item

A child has had a hoarse cry since infancy. Now there are beaded papules along the eyelid margins and waxy thickened skin, and imaging shows bean-shaped intracranial calcification. Which gene is mutated?

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

The answer and the reasoning

A. ECM1

Lipoid proteinosis (Urbach-Wiethe disease) is an autosomal recessive disorder from ECM1 mutations. Hyaline deposition in the skin and larynx causes hoarseness, beaded eyelid papules and temporal lobe calcification.

Option by option

  • A. ECM1 (correct)

    Correct. ECM1 mutations cause lipoid proteinosis.

  • B. KRT5

    KRT5 mutations cause epidermolysis bullosa simplex.

  • C. FERMT1

    FERMT1 mutations cause Kindler syndrome.

  • D. COL17A1

    COL17A1 mutations cause generalised atrophic benign junctional epidermolysis bullosa.

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 A, ECM1. Lipoid proteinosis (Urbach-Wiethe disease) is an autosomal recessive disorder from ECM1 mutations.

Why is "KRT5" not the answer?

KRT5 mutations cause epidermolysis bullosa simplex.

Why is "FERMT1" not the answer?

FERMT1 mutations cause Kindler syndrome.

Why is "COL17A1" not the answer?

COL17A1 mutations cause generalised atrophic benign junctional epidermolysis bullosa.

What concept does this question test?

It tests Papulosquamous disorders: lipoid proteinosis in Dermatology. Hyaline deposition in the skin and larynx causes hoarseness, beaded eyelid papules and temporal lobe calcification.

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 Papulosquamous disorders: lipoid proteinosis?

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.