Ehlers-Danlos Syndrome Type Arthrochalasia: A Systematic Review.
Int J Environ Res Public Health
; 19(3)2022 02 07.
Article
in En
| MEDLINE
| ID: mdl-35162892
ABSTRACT
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Skin Abnormalities
/
Ehlers-Danlos Syndrome
/
Joint Instability
Type of study:
Diagnostic_studies
/
Guideline
/
Systematic_reviews
Aspects:
Patient_preference
Limits:
Humans
Language:
En
Journal:
Int J Environ Res Public Health
Year:
2022
Document type:
Article
Affiliation country:
Spain