Genodermatoses: Netherton 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.

Try it

Dermatology · Genodermatoses: Netherton syndrome

Sample item

A newborn has erythroderma and later develops migratory polycyclic scaling plaques with a double-edged scale, sparse brittle hair that shows bamboo-like nodes under the microscope, and a raised IgE. Which gene is mutated?

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

The answer and the reasoning

A. SPINK5

Netherton syndrome is an autosomal recessive disorder from SPINK5 mutation, with ichthyosis linearis circumflexa, bamboo hair (trichorrhexis invaginata) and atopic features. It causes neonatal erythroderma and failure to thrive. FLG mutations cause ichthyosis vulgaris.

Option by option

  • A. SPINK5 (correct)

    Correct. SPINK5 mutation causes Netherton syndrome.

  • B. FLG

    FLG mutation causes ichthyosis vulgaris and predisposes to atopy.

  • C. KRT5

    KRT5 mutation causes epidermolysis bullosa simplex.

  • D. COL7A1

    COL7A1 mutation causes dystrophic epidermolysis bullosa.

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 A, SPINK5. Netherton syndrome is an autosomal recessive disorder from SPINK5 mutation, with ichthyosis linearis circumflexa, bamboo hair (trichorrhexis invaginata) and atopic features.

Why is "FLG" not the answer?

FLG mutation causes ichthyosis vulgaris and predisposes to atopy.

Why is "KRT5" not the answer?

KRT5 mutation causes epidermolysis bullosa simplex.

Why is "COL7A1" not the answer?

COL7A1 mutation causes dystrophic epidermolysis bullosa.

What concept does this question test?

It tests Genodermatoses: Netherton syndrome in Dermatology. It causes neonatal erythroderma and failure to thrive. FLG mutations cause ichthyosis vulgaris.

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 Genodermatoses: Netherton 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.