Skin tumours: Birt-Hogg-Dube 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 · Skin tumours: Birt-Hogg-Dube syndrome

Sample item

A 40-year-old has multiple small dome-shaped skin-coloured papules on the face and neck, and had a spontaneous pneumothorax. CT shows basal lung cysts and a renal mass. Which syndrome is likely?

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

The answer and the reasoning

B. Birt-Hogg-Dube syndrome

Birt-Hogg-Dube syndrome is an autosomal dominant FLCN mutation disorder with fibrofolliculomas, lung cysts causing pneumothorax, and renal tumours. Skin lesions appear in adulthood. Renal imaging surveillance is advised.

Option by option

  • A. Gorlin syndrome

    Gorlin syndrome has multiple BCCs and jaw cysts.

  • B. Birt-Hogg-Dube syndrome (correct)

    Correct. Fibrofolliculomas, lung cysts and renal tumours indicate Birt-Hogg-Dube syndrome.

  • C. Neurofibromatosis type 1

    NF1 has neurofibromas and cafe-au-lait macules.

  • D. Tuberous sclerosis

    Tuberous sclerosis has angiofibromas and angiomyolipomas but not this pattern.

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, Birt-Hogg-Dube syndrome. Birt-Hogg-Dube syndrome is an autosomal dominant FLCN mutation disorder with fibrofolliculomas, lung cysts causing pneumothorax, and renal tumours.

Why is "Gorlin syndrome" not the answer?

Gorlin syndrome has multiple BCCs and jaw cysts.

Why is "Neurofibromatosis type 1" not the answer?

NF1 has neurofibromas and cafe-au-lait macules.

Why is "Tuberous sclerosis" not the answer?

Tuberous sclerosis has angiofibromas and angiomyolipomas but not this pattern.

What concept does this question test?

It tests Skin tumours: Birt-Hogg-Dube syndrome in Dermatology. Skin lesions appear in adulthood. Renal imaging surveillance is advised.

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 Skin tumours: Birt-Hogg-Dube 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.