292 Patients with MAUIE syndrome are carriers of heterozygous IWC-associated KRT10 variants

Ichthyosis with confetti (IWC) is a genodermatosis characterized by congenital erythroderma and the systematic development of epidermal pale spots not described in other genodermatoses. All IWC patients are carriers of a heterozygous keratin (KRT)10 or KRT1 variant leading to a shifted reading frame and the translation of an aberrant carboxyl (C)-terminus. The aberrant KRT10/KRT1 protein is localized in the nucleus instead of the cytoplasm. 20 years ago, 2 patients with an IWC-like phenotype were described to suffer from MAUIE (micropinnae, alopecia universalis, ichthyosis, ectropion) syndrome.

Source: Journal of Investigative Dermatology - August 31, 2019 Category: Dermatology Authors: B. Burger, A. Ghosh, C.K. Ng, S. Piscuoglio, I. Spoerri, S. von Arb, P.H. Itin, K. Greer, D. Elbaum Tags: Genetics and Cell Based Therapy Source Type: research