Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity

Overview

Journal Diagnostics (Basel)

Specialty Radiology

Date 2022 Jun 24

PMID 35741135

Authors

Monica-Cristina Panzaru

Lavinia Caba

Laura Florea

Elena Emanuela Braha

Eusebiu Vlad Gorduza

Affiliations

Soon will be listed here.

Abstract

Epidermolysis bullosa is a heterogeneous group of rare genetic disorders characterized by mucocutaneous fragility and blister formation after minor friction or trauma. There are four major epidermolysis bullosa types based on the ultrastructural level of tissue cleavage: simplex, junctional, dystrophic, and Kindler epidermolysis bullosa. They are caused by mutations in genes that encode the proteins that are part of the hemidesmosomes and focal adhesion complex. Some of these disorders can be associated with extracutaneous manifestations, which are sometimes fatal. They are inherited in an autosomal recessive or autosomal dominant manner. This review is focused on the phenomena of heterogeneity (locus, allelic, mutational, and clinical) in epidermolysis bullosa, and on the correlation genotype-phenotype.

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