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Dentistry · Oral medicine and oral cancer: white sponge nevus genetics
Sample itemA teenager has thick, folded, asymptomatic white plaques on both buccal mucosae since childhood, and a parent has similar lesions. Biopsy shows spongy acanthosis with vacuolated cells. Mutation of which gene is responsible?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Keratin 4 or keratin 13
White sponge nevus is an autosomal dominant disorder caused by mutations in keratin 4 or 13 of the non-keratinised mucosa. It is benign, requires no treatment and is not premalignant.
Option by option
A. Keratin 5 or keratin 14
Keratin 5 and 14 mutations cause epidermolysis bullosa simplex with blistering.
B. Collagen type VII
Collagen VII defects cause dystrophic epidermolysis bullosa.
C. Desmoglein 3
Desmoglein 3 is the autoantigen of pemphigus vulgaris and not a mutated gene here.
D. Keratin 4 or keratin 13 (correct)
Correct. White sponge nevus results from KRT4 or KRT13 mutation.
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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