Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Mosaic and Generalized Forms of Keratinopathic Ichthyoses

Version 1 : Received: 8 September 2020 / Approved: 10 September 2020 / Online: 10 September 2020 (07:52:13 CEST)

How to cite: Tadini, G.; Guez, S.; Brena, M. Mosaic and Generalized Forms of Keratinopathic Ichthyoses. Preprints 2020, 2020090227 (doi: 10.20944/preprints202009.0227.v1). Tadini, G.; Guez, S.; Brena, M. Mosaic and Generalized Forms of Keratinopathic Ichthyoses. Preprints 2020, 2020090227 (doi: 10.20944/preprints202009.0227.v1).

Abstract

Mutations in KRT1 (keratin 1) or KRT10 (keratin 10) underlie a spectrum of diseases known as keratinopathic ichthyoses. Epidermolytic ichthyosis (EI) is caused by heterozygous missense mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 (keratin 2) lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by frameshift mutations in the genes KRT10 or KRT1, which lead to the phenomenon of revertant mosaicism. Epidermolytic ichthyosis is also present in a mosaic pattern known as epidermolytic (acantholytic) nevus, isolated or diffuse. In the latter case, gonadic involvement is possible, leading to a rare pedigree in which a parent with diffuse epidermolytic nevus (linear EI) gives birth to a child affected by EI. We present here an update on the phenotypic presentations of keratinopathic ichthyoses and their molecular mechanisms.

Subject Areas

keratin 1; keratin 2; keratin 10; epidermolytic ichthyosis; keratinopathic ichthyoses; congenital reticular ichthyosiform erythroderma; ichthyosis en confetti; revertant mosaicism; epidermolytic nevus, mosaicism

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