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

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, dystrop...

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Autores principales: Pânzaru, Monica-Cristina, Caba, Lavinia, Florea, Laura, Braha, Elena Emanuela, Gorduza, Eusebiu Vlad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222206/
https://www.ncbi.nlm.nih.gov/pubmed/35741135
http://dx.doi.org/10.3390/diagnostics12061325
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author Pânzaru, Monica-Cristina
Caba, Lavinia
Florea, Laura
Braha, Elena Emanuela
Gorduza, Eusebiu Vlad
author_facet Pânzaru, Monica-Cristina
Caba, Lavinia
Florea, Laura
Braha, Elena Emanuela
Gorduza, Eusebiu Vlad
author_sort Pânzaru, Monica-Cristina
collection PubMed
description 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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spelling pubmed-92222062022-06-24 Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity Pânzaru, Monica-Cristina Caba, Lavinia Florea, Laura Braha, Elena Emanuela Gorduza, Eusebiu Vlad Diagnostics (Basel) Review 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. MDPI 2022-05-27 /pmc/articles/PMC9222206/ /pubmed/35741135 http://dx.doi.org/10.3390/diagnostics12061325 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Pânzaru, Monica-Cristina
Caba, Lavinia
Florea, Laura
Braha, Elena Emanuela
Gorduza, Eusebiu Vlad
Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity
title Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity
title_full Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity
title_fullStr Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity
title_full_unstemmed Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity
title_short Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity
title_sort epidermolysis bullosa—a different genetic approach in correlation with genetic heterogeneity
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222206/
https://www.ncbi.nlm.nih.gov/pubmed/35741135
http://dx.doi.org/10.3390/diagnostics12061325
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