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Dermatology · Vesiculobullous disorders: localised epidermolysis bullosa simplex
Sample itemA recruit has tense blisters on the soles after long route marches in summer. He has had the same problem since childhood and his father is affected. There is no mucosal involvement. Which proteins are defective?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Keratin 5 and keratin 14
Localised epidermolysis bullosa simplex (Weber-Cockayne) causes friction blisters on hands and feet, worse in hot weather, from keratin 5 or 14 defects. Basal keratinocytes fragment and the split is intraepidermal.
Option by option
A. Keratin 1 and keratin 10
Keratin 1 and 10 defects cause epidermolytic hyperkeratosis.
B. Keratin 5 and keratin 14 (correct)
Correct. Keratin 5 and 14 defects cause epidermolysis bullosa simplex.
C. Collagen VII
Collagen VII is defective in dystrophic epidermolysis bullosa, with scarring.
D. Laminin 332
Laminin 332 is defective in junctional epidermolysis bullosa, with a lamina lucida split.
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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