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Dermatology · Pigmentary disorders: piebaldism
Sample itemA boy has a white forelock and symmetric depigmented patches on the abdomen and limbs since birth, with islands of normal pigment inside them. Which gene is mutated?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. KIT
Piebaldism is autosomal dominant and results from loss-of-function mutations in KIT, impairing melanoblast migration, so patches lack melanocytes. Unlike vitiligo, it is present from birth and is stable.
Option by option
A. TYR
TYR mutation causes albinism.
B. MITF only
MITF mutation is linked to Waardenburg syndrome type 2, which has deafness.
C. KIT (correct)
Correct. KIT mutation causes piebaldism.
D. FLG
FLG mutation causes ichthyosis 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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