Cargando…
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...
Autores principales: | , , , , |
---|---|
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 |
_version_ | 1784732817376149504 |
---|---|
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. |
format | Online Article Text |
id | pubmed-9222206 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT panzarumonicacristina epidermolysisbullosaadifferentgeneticapproachincorrelationwithgeneticheterogeneity AT cabalavinia epidermolysisbullosaadifferentgeneticapproachincorrelationwithgeneticheterogeneity AT florealaura epidermolysisbullosaadifferentgeneticapproachincorrelationwithgeneticheterogeneity AT brahaelenaemanuela epidermolysisbullosaadifferentgeneticapproachincorrelationwithgeneticheterogeneity AT gorduzaeusebiuvlad epidermolysisbullosaadifferentgeneticapproachincorrelationwithgeneticheterogeneity |