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Dermatology · Dermatitis
Sample itemA 3-year-old with dry skin has an itchy, lichenified rash in the flexures of the elbows and knees. His father has asthma. Loss-of-function mutations in which gene are strongly associated with this condition?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Filaggrin
Atopic dermatitis is associated with loss-of-function mutations of the filaggrin gene (FLG), which impair the epidermal barrier, increase water loss and allow allergen penetration. It is linked with asthma and allergic rhinitis, and management rests on emollients and topical anti-inflammatory agents.
Option by option
A. Filaggrin (correct)
Correct. Filaggrin deficiency weakens the skin barrier in atopic disease.
B. Collagen VII
Collagen VII mutations cause dystrophic epidermolysis bullosa.
C. Keratin 5
Keratin 5 mutations cause epidermolysis bullosa simplex.
D. Desmoglein 3
Desmoglein 3 is the target in pemphigus vulgaris.
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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