שאלה משלב א׳ במחלות עור ומין · מועד 2026, שאלה 90

ICHTHYOSIS WITH CONFETTI is caused by dominant-negative frameshift mutations in KRT10 (and rarely KRT1 revertant mosaicism is the mechanism of the confetti-like normal spots) - specifically KRT10 rather than KRT1, which is the answer here. KRT1 mutations cause epidermolytic (superficial) ichthyosis, ichthyosis hystrix of Curth-Macklin, epidermolytic palmoplantar keratoderma and (with KRT10) epidermolytic ichthyosis.

מקור: Bolognia p. 887