Papulosquamous: Ehlers-Danlos syndrome: 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: Ehlers-Danlos syndrome

Sample item

A young man has hyperextensible skin, wide atrophic scars, joint hypermobility and easy bruising. What is the underlying defect?

ADefective elastin gene onlyBFibrillin-1 mutation onlyCKeratin mutationDDefective collagen synthesis or structure

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

The answer and the reasoning

D. Defective collagen synthesis or structure

Ehlers-Danlos syndromes are disorders of collagen, such as type V collagen defects in the classic form, with skin hyperextensibility, fragile skin, atrophic scars and joint hypermobility. Vascular type carries a risk of arterial rupture. Marfan syndrome involves fibrillin-1.

Option by option

A. Defective elastin gene only
Elastin defects relate to cutis laxa and supravalvular aortic stenosis.
B. Fibrillin-1 mutation only
Fibrillin-1 mutation causes Marfan syndrome.
C. Keratin mutation
Keratin mutations cause epidermolysis bullosa simplex and ichthyoses.
D. Defective collagen synthesis or structure (correct)
Correct. Collagen defects underlie Ehlers-Danlos syndrome.

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.

Questions about this Dermatology question

What is the answer to this Dermatology question?

The best answer is D, Defective collagen synthesis or structure. Ehlers-Danlos syndromes are disorders of collagen, such as type V collagen defects in the classic form, with skin hyperextensibility, fragile skin, atrophic scars and joint hypermobility.

Why is "Defective elastin gene only" not the answer?

Elastin defects relate to cutis laxa and supravalvular aortic stenosis.

Why is "Fibrillin-1 mutation only" not the answer?

Fibrillin-1 mutation causes Marfan syndrome.

Why is "Keratin mutation" not the answer?

Keratin mutations cause epidermolysis bullosa simplex and ichthyoses.

What concept does this question test?

It tests Papulosquamous: Ehlers-Danlos syndrome in Dermatology. Vascular type carries a risk of arterial rupture. Marfan syndrome involves fibrillin-1.

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 Papulosquamous: Ehlers-Danlos syndrome?

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.