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Dermatology · Vesiculobullous disorders: dystrophic epidermolysis bullosa protein
Sample itemA 3-year-old has blisters on the hands and knees that heal with scarring, milia and loss of nails, and the fingers are starting to fuse together. Which structural protein is defective?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Type VII collagen
Dystrophic epidermolysis bullosa results from COL7A1 mutations that affect anchoring fibrils below the lamina densa. Blisters heal with scarring, milia, nail loss and pseudosyndactyly.
Option by option
A. Desmoglein 3
Desmoglein 3 is the target in pemphigus vulgaris, an acquired autoimmune disease.
B. Keratin 5 and 14
Keratin 5 and 14 defects cause epidermolysis bullosa simplex, which heals without scarring.
C. Type VII collagen (correct)
Correct. Defective type VII collagen causes scarring blistering below the basement membrane.
D. Laminin-332
Laminin-332 defects cause junctional epidermolysis bullosa with granulation tissue and enamel 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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