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Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review

Ehlers–Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an autosomal dominant connective tissue disease ca...

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Autores principales: Martín-Martín, Marta, Cortés-Martín, Jonathan, Tovar-Gálvez, Maria Isabel, Sánchez-García, Juan Carlos, Díaz-Rodríguez, Lourdes, Rodríguez-Blanque, Raquel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8835098/
https://www.ncbi.nlm.nih.gov/pubmed/35162892
http://dx.doi.org/10.3390/ijerph19031870
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author Martín-Martín, Marta
Cortés-Martín, Jonathan
Tovar-Gálvez, Maria Isabel
Sánchez-García, Juan Carlos
Díaz-Rodríguez, Lourdes
Rodríguez-Blanque, Raquel
author_facet Martín-Martín, Marta
Cortés-Martín, Jonathan
Tovar-Gálvez, Maria Isabel
Sánchez-García, Juan Carlos
Díaz-Rodríguez, Lourdes
Rodríguez-Blanque, Raquel
author_sort Martín-Martín, Marta
collection PubMed
description Ehlers–Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an autosomal dominant connective tissue disease causing defects in collagen, associated with two genes, COL1A1 or COL1A2. Only about 42 cases have been published worldwide. Treatment is currently symptomatic and focuses on increasing the quality of life of these patients, as there is no curative treatment. The main objective of the review was to update information on Ehlers–Danlos syndrome type arthrochalasia from scientific publications. The review report was carried out in accordance with the criteria of the Preferred Reporting Items for Systematic reviews and MetaAnalyses (PRISMA) review protocol, by searching Orphanet, OMIM, PubMed, and Scopus, as well as free sources. A total of 20 articles were analyzed, which, after analysis, provide an updated report that aims to establish a solid starting point for future lines of research.
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spelling pubmed-88350982022-02-12 Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review Martín-Martín, Marta Cortés-Martín, Jonathan Tovar-Gálvez, Maria Isabel Sánchez-García, Juan Carlos Díaz-Rodríguez, Lourdes Rodríguez-Blanque, Raquel Int J Environ Res Public Health Review Ehlers–Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an autosomal dominant connective tissue disease causing defects in collagen, associated with two genes, COL1A1 or COL1A2. Only about 42 cases have been published worldwide. Treatment is currently symptomatic and focuses on increasing the quality of life of these patients, as there is no curative treatment. The main objective of the review was to update information on Ehlers–Danlos syndrome type arthrochalasia from scientific publications. The review report was carried out in accordance with the criteria of the Preferred Reporting Items for Systematic reviews and MetaAnalyses (PRISMA) review protocol, by searching Orphanet, OMIM, PubMed, and Scopus, as well as free sources. A total of 20 articles were analyzed, which, after analysis, provide an updated report that aims to establish a solid starting point for future lines of research. MDPI 2022-02-07 /pmc/articles/PMC8835098/ /pubmed/35162892 http://dx.doi.org/10.3390/ijerph19031870 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
Martín-Martín, Marta
Cortés-Martín, Jonathan
Tovar-Gálvez, Maria Isabel
Sánchez-García, Juan Carlos
Díaz-Rodríguez, Lourdes
Rodríguez-Blanque, Raquel
Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review
title Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review
title_full Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review
title_fullStr Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review
title_full_unstemmed Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review
title_short Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review
title_sort ehlers–danlos syndrome type arthrochalasia: a systematic review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8835098/
https://www.ncbi.nlm.nih.gov/pubmed/35162892
http://dx.doi.org/10.3390/ijerph19031870
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