Genodermatoses: pseudoxanthoma elasticum: 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: pseudoxanthoma elasticum

Sample item

A young woman has yellowish papules in a cobblestone pattern on the neck and axillae with angioid streaks on fundoscopy and gastrointestinal bleeding. What is the pathology?

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

The answer and the reasoning

D. Calcification and fragmentation of elastic fibres due to ABCC6 mutation

Pseudoxanthoma elasticum is an autosomal recessive disease with ABCC6 mutations that lead to mineralisation of elastic fibres, giving plucked chicken skin, angioid streaks and vascular complications. Von Kossa stain shows the calcium.

Option by option

  • A. Defective fibrillin-1 causing aortic root dilatation

    Fibrillin-1 defects cause Marfan syndrome.

  • B. Overproduction of melanin

    Melanin overproduction is not the basis.

  • C. Defective collagen type V synthesis

    Collagen V defects cause classic Ehlers-Danlos syndrome.

  • D. Calcification and fragmentation of elastic fibres due to ABCC6 mutation (correct)

    Correct. Elastic fibre calcification explains the features.

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, Calcification and fragmentation of elastic fibres due to ABCC6 mutation. Pseudoxanthoma elasticum is an autosomal recessive disease with ABCC6 mutations that lead to mineralisation of elastic fibres, giving plucked chicken skin, angioid streaks and vascular complications.

Why is "Defective fibrillin-1 causing aortic root dilatation" not the answer?

Fibrillin-1 defects cause Marfan syndrome.

Why is "Overproduction of melanin" not the answer?

Melanin overproduction is not the basis.

Why is "Defective collagen type V synthesis" not the answer?

Collagen V defects cause classic Ehlers-Danlos syndrome.

What concept does this question test?

It tests Genodermatoses: pseudoxanthoma elasticum in Dermatology. Von Kossa stain shows the calcium.

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: pseudoxanthoma elasticum?

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.