“…Mutations in KRT1 (keratin 1) or KRT10 (keratin 10) underlie a spectrum of diseases known as keratinopathic ichthyoses (Oji et al, 2010;Hotz et al, 2016). Most commonly, heterozygous missense mutations within the head/tail domains result in autosomal dominant epidermolytic ichthyosis (EI), although a spectrum of mutations (some of which may be recessive) underlie a diverse collection of phenotypes that include generalized, annular, superficial (occasionally; mostly keratin 2) and nevoid forms of EI, as well as palmoplantar keratoderma (diffuse, focal, striate), severe variants such as Curth-Macklin ichthyosis, and most recently, ichthyosis with confetti (IWC) (for review on keratin diseases, see Knöbel et al, 2015).…”