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Dermatology · Genodermatoses: Darier disease
Sample itemA young adult has greasy, keratotic brown papules over the seborrhoeic areas, V-shaped nail nicking and worsening in summer. Histology shows corps ronds and grains. Which gene is involved?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. ATP2A2
Darier disease is an autosomal dominant disorder from mutations in ATP2A2, which encodes the SERCA2 calcium pump of the endoplasmic reticulum. Oral retinoids help severe disease.
Option by option
A. KRT5
KRT5 causes epidermolysis bullosa simplex.
B. FLG
FLG mutations cause ichthyosis vulgaris.
C. ATP2A2 (correct)
Correct. ATP2A2 mutation causes Darier disease.
D. ATP2C1
ATP2C1 causes Hailey-Hailey disease.
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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