Pigmentary disorders: Hermansky-Pudlak 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: Hermansky-Pudlak syndrome

Sample item

An albino patient reports easy bruising and prolonged bleeding after dental extraction. Platelet count is normal and platelet aggregation shows a storage pool defect. Which syndrome is suspected?

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

The answer and the reasoning

A. Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome combines oculocutaneous albinism with a platelet storage pool defect causing bleeding, and with ceroid deposition leading to granulomatous colitis or pulmonary fibrosis in some types. Platelets lack dense granules. It is common in Puerto Rico.

Option by option

  • A. Hermansky-Pudlak syndrome (correct)

    Correct. Albinism with platelet storage pool defect is Hermansky-Pudlak syndrome.

  • B. Waardenburg syndrome

    Waardenburg has deafness, white forelock and dystopia canthorum.

  • C. Griscelli syndrome

    Griscelli syndrome has silvery hair with immune or neurological problems.

  • D. Chediak-Higashi syndrome

    Chediak-Higashi has giant granules and immune defects.

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 A, Hermansky-Pudlak syndrome. Hermansky-Pudlak syndrome combines oculocutaneous albinism with a platelet storage pool defect causing bleeding, and with ceroid deposition leading to granulomatous colitis or pulmonary fibrosis in some types.

Why is "Waardenburg syndrome" not the answer?

Waardenburg has deafness, white forelock and dystopia canthorum.

Why is "Griscelli syndrome" not the answer?

Griscelli syndrome has silvery hair with immune or neurological problems.

Why is "Chediak-Higashi syndrome" not the answer?

Chediak-Higashi has giant granules and immune defects.

What concept does this question test?

It tests Pigmentary disorders: Hermansky-Pudlak syndrome in Dermatology. Platelets lack dense granules. It is common in Puerto Rico.

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: Hermansky-Pudlak 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.