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Dermatology · Dermatitis: atopic dermatitis pathogenesis
Sample itemA child has chronic itchy flexural eczema, dry skin, asthma and a family history of atopy. Loss-of-function mutations in which gene are strongly associated?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. Filaggrin
Filaggrin mutations impair the skin barrier, increase transepidermal water loss and predispose to atopic dermatitis and ichthyosis vulgaris. Th2 cytokines such as IL-4 and IL-13 drive the inflammation.
Option by option
A. Keratin 5
Keratin 5 mutations cause epidermolysis bullosa simplex.
B. Filaggrin (correct)
Correct. Filaggrin deficiency weakens the barrier.
C. Collagen VII
Collagen VII mutations cause dystrophic epidermolysis bullosa.
D. Desmoglein 1
Desmoglein 1 is the target in pemphigus foliaceus.
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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