Discovery of heterozygous KRT10 alterations in MAUIE patients underlines the importance of regular skin cancer screening in ichthyosis with confetti-patients

Skin Cancer
15/05/2020

Burger B, et al. Br J Dermatol 2020.

ABSTRACT

Ichthyosis with confetti (IWC) (OMIM#609165), also known as congenital reticular ichthyosiform erythroderma (CRIE), is an autosomal dominant genodermatosis with erythroderma on the entire body surface. Unique to IWC is the development of 100s and 1000s of pale spots resembling healthy skin. Almost 20% of the patients develop non-melanoma skin cancer (NMSC) in early adulthood for unknown reasons. In all the patients heterozygous variants in either keratin (KRT)10 or KRT1 have been found leading


to a shifted reading-frame and translation of an aberrant carboxyl-terminus of the protein.