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

Discovery of heterozygous KRT10 alterations in MAUIE patients underlines the importance of regular skin cancer screening in ichthyosis with confetti-patients. Br J Dermatol. 2020 May 14;: Authors: Burger B, Ghosh A, Ng CKY, Piscuoglio S, Spoerri I, Itin PH, Greer K, Elbaum D 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. PMID: 32407542 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research