Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review

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.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.

Molecular and Genetic Mechanisms of Spinal Stenosis Formation: Systematic Review

“…OPLL occurs in men twice as often as in women, with an average onset age of 50 years [ 25 ]. It is estimated that up to 25% of patients with cervical myelopathy have OPLL [ 16 ].…”

Ehlers-Danlos syndromes and their manifestations in the visual system

“…Arthrochalasia Ehlers-Danlos Syndrome (aEDS), also known as Ehlers-Danlos Syndrome type VII, is an autosomal dominant condition caused by heterozygous mutations in the COL1A1 and COL1A2 genes, which normally encode the pro-alpha-1 and pro-alpha-2 chains of type 1 collagen. Such mutations result in the loss of exon 6 in either gene during the pre-mRNA processing and impairs the proper formation of collagen fibrils ( 57 ). Previously, the syndrome was further subdivided into EDS Type VIIA in cases of affected alpha-chain-1 or EDS Type VIIB in cases of affected alpha-chain-2.…”

“…Previously, the syndrome was further subdivided into EDS Type VIIA in cases of affected alpha-chain-1 or EDS Type VIIB in cases of affected alpha-chain-2. AEDS is a very rare disorder with an unknown prevalence and a reported case number of only 49 patients worldwide ( 5 , 57 ). The diagnostic criteria can be split into major and minor factors.…”

“…The major criteria include congenital bilateral hip dislocation, severe generalized joint hypermobility, recurrent small or large joint dislocation and hyper-extensibility of the skin. The minor criteria include muscle hypotonia, kyphoscoliosis, radiologically mild osteopenia, tissue fragility including atrophic scars and skin prone to bruising ( 5 , 57 ). The minimal clinical criteria for diagnosis is either a combination of congenital bilateral hip dislocation with skin hyper-extensibility or severe generalized joint hypermobility with at least two other minor criteria.…”