Pigmentary disorders: Chediak-Higashi 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 · Pigmentary disorders: Chediak-Higashi syndrome

Sample item

A child has silvery-grey hair, partial oculocutaneous albinism, recurrent pyogenic infections and giant cytoplasmic granules in leukocytes. Which gene is defective?

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

The answer and the reasoning

C. LYST

Chediak-Higashi syndrome is an autosomal recessive lysosomal trafficking disorder from LYST mutation, with partial albinism, silvery hair, recurrent infections and giant granules in leukocytes. It can progress to an accelerated haemophagocytic phase. Haematopoietic stem cell transplantation is the definitive treatment.

Option by option

  • A. TYR

    TYR mutation causes tyrosinase-negative albinism without immune defects.

  • B. HPS1

    HPS1 mutation causes Hermansky-Pudlak syndrome with bleeding.

  • C. LYST (correct)

    Correct. LYST mutation causes Chediak-Higashi syndrome.

  • D. OCA2

    OCA2 mutation causes oculocutaneous albinism type 2 only.

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 C, LYST. Chediak-Higashi syndrome is an autosomal recessive lysosomal trafficking disorder from LYST mutation, with partial albinism, silvery hair, recurrent infections and giant granules in leukocytes.

Why is "TYR" not the answer?

TYR mutation causes tyrosinase-negative albinism without immune defects.

Why is "HPS1" not the answer?

HPS1 mutation causes Hermansky-Pudlak syndrome with bleeding.

Why is "OCA2" not the answer?

OCA2 mutation causes oculocutaneous albinism type 2 only.

What concept does this question test?

It tests Pigmentary disorders: Chediak-Higashi syndrome in Dermatology. It can progress to an accelerated haemophagocytic phase. Haematopoietic stem cell transplantation is the definitive treatment.

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 Pigmentary disorders: Chediak-Higashi 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.