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Dermatology · Papulosquamous disorders: steatocystoma multiplex
Sample itemA teenage boy has dozens of firm, yellowish dome-shaped cysts on the chest and axillae, from the age of 12. When punctured they release an oily, clear fluid. Which gene is usually mutated?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. KRT17
Steatocystoma multiplex is an autosomal dominant condition with many sebaceous cysts. It is caused by mutations in keratin 17, which also underlies pachyonychia congenita type 2.
Option by option
A. FLG
FLG loss of function causes ichthyosis vulgaris and atopy.
B. KRT5
KRT5 mutations cause epidermolysis bullosa simplex.
C. KRT10
KRT10 mutations cause epidermolytic hyperkeratosis.
D. KRT17 (correct)
Correct. KRT17 mutations underlie steatocystoma multiplex.
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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