A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in <i>KRT5</i>

A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in <i>KRT5</i>

Epidermolysis bullosa simplex is a disease that belongs to a group of genodermatoses characterised by the formation of superficial bullous lesions caused by minor mechanical trauma to the skin. The skin fragility observed in the EBS is mainly caused by pathogenic variants in the <i>KRT5</i&...

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Bibliographic Details
Main Authors: Francesco Paduano, Emma Colao, Teresa Grillone, Marco Flavio Michele Vismara, Rosario Amato, Steven Nisticò, Chiara Mignogna, Stefano Dastoli, Fernanda Fabiani, Rossella Zucco, Francesco Trapasso, Nicola Perrotti, Rodolfo Iuliano
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Genes
Subjects:
genodermatoses
EBS
<i>KRT5</i>
<i>KRT14</i>
cytokeratin
Online Access:https://www.mdpi.com/2073-4425/12/10/1503
Description
Summary:Epidermolysis bullosa simplex is a disease that belongs to a group of genodermatoses characterised by the formation of superficial bullous lesions caused by minor mechanical trauma to the skin. The skin fragility observed in the EBS is mainly caused by pathogenic variants in the <i>KRT5</i> and <i>KRT14</i> genes that compromise the mechanical stability of epithelial cells. By performing DNA sequencing in a female patient with EBS, we found the pathogenic variant c.967G>A (p.Val323Met) in the <i>KRT5</i> gene. This variant co-segregated with EBS in the family pedigree and was transmitted in an autosomal dominant inheritance manner. This is the first report showing a familial form of EBS due to this pathogenic variant.
ISSN:2073-4425

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