Skin tumours: Gorlin 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: Gorlin syndrome

Sample item

A 20-year-old has multiple basal cell carcinomas, palmar pits and odontogenic keratocysts of the jaw. Which gene is mutated?

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

The answer and the reasoning

C. PTCH1

Basal cell naevus (Gorlin) syndrome results from PTCH1 mutation in the sonic hedgehog pathway, and sporadic basal cell carcinoma also commonly involves this pathway. Features include jaw cysts, palmoplantar pits and medulloblastoma. Radiation exposure should be avoided.

Option by option

  • A. CDKN2A

    CDKN2A is linked to familial melanoma.

  • B. RB1

    RB1 is linked to retinoblastoma.

  • C. PTCH1 (correct)

    Correct. PTCH1 mutations cause Gorlin syndrome.

  • D. TP53

    TP53 mutations cause Li-Fraumeni 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.

More Dermatology questions

Questions about this Dermatology question

What is the answer to this Dermatology question?

The best answer is C, PTCH1. Basal cell naevus (Gorlin) syndrome results from PTCH1 mutation in the sonic hedgehog pathway, and sporadic basal cell carcinoma also commonly involves this pathway.

Why is "CDKN2A" not the answer?

CDKN2A is linked to familial melanoma.

Why is "RB1" not the answer?

RB1 is linked to retinoblastoma.

Why is "TP53" not the answer?

TP53 mutations cause Li-Fraumeni syndrome.

What concept does this question test?

It tests Skin tumours: Gorlin syndrome in Dermatology. Features include jaw cysts, palmoplantar pits and medulloblastoma. Radiation exposure should be avoided.

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: Gorlin 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.