Exploring pain mechanisms in hypermobile Ehlers‐Danlos syndrome: A case–control study
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Pain"
DOI: 10.1002/ejp.1956
Abstract: The hypermobile type of Ehlers‐Danlos syndrome (hEDS) is a heritable connective tissue disorder, associated with joint hypermobility and prominent chronic pain. Because experimental pain testing in hEDS is scarce, the underlying mechanisms are still poorly… read more here.
Keywords: mechanisms hypermobile; danlos syndrome; pain mechanisms; pain ... See more keywords
Clinical and pathophysiological delineation of musculocontractural Ehlers—Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24437
Abstract: Musculocontractural Ehlers–Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐DSE) is a rare connective tissue disorder. This is the first report describing the detailed and comprehensive clinical and pathophysiological features of mcEDS‐DSE. The patient, with… read more here.
Keywords: danlos syndrome; dermatan sulfate; ehlers danlos; mceds dse ... See more keywords
Hypermobile Ehlers‐Danlos Syndrome: A Prodromal Subtype of Functional Movement Disorders?
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DOI: 10.1002/mdc3.13545
Abstract: The phenotypic diversity of functional movement disorders (FMD) is considered a reflection of its many etiological subtypes. Ehlers‐Danlos syndrome (EDS), a joint hypermobility syndrome, also has variable phenotypes, which may include functional symptoms. read more here.
Keywords: movement disorders; movement; danlos syndrome; hypermobile ehlers ... See more keywords
Ex vivo nonlinear microscopy imaging of Ehlers–Danlos syndrome-affected skin
Sign Up to like & getrecommendations! Published in 2018 at "Archives of Dermatological Research"
DOI: 10.1007/s00403-018-1835-7
Abstract: Ehlers–Danlos syndrome (EDS) is the name for a heterogenous group of rare genetic connective tissue disorders with an overall incidence of 1 in 5000. The histological characteristics of EDS have been previously described in detail… read more here.
Keywords: microscopy; danlos syndrome; skin; ehlers danlos ... See more keywords
Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Dermatological Research"
DOI: 10.1007/s00403-019-01894-0
Abstract: Ehlers–Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) defined by joint laxity, skin alterations, and joint hypermobility. The latest EDS classification recognized 13 subtypes in which the… read more here.
Keywords: understanding basis; danlos syndrome; ehlers danlos; next generation ... See more keywords
Kyphoscolitic type of Ehlers-Danlos syndrome with prenatal stroke
Sign Up to like & getrecommendations! Published in 2017 at "Indian Pediatrics"
DOI: 10.1007/s13312-017-1054-x
Abstract: BackgroundThe kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is an autosomal recessive disorder characterized by connective tissue dysplasia.Case characteristicsWe report two children with perinatal stroke; accompanied by neonatal joint hypermobility, hypotonia; and early development… read more here.
Keywords: danlos syndrome; kyphoscolitic type; type ehlers; ehlers danlos ... See more keywords
Classic Ehlers-Danlos Syndrome: Clinical and Ultrasound Findings.
Sign Up to like & getrecommendations! Published in 2018 at "Actas dermo-sifiliograficas"
DOI: 10.1016/j.ad.2018.05.012
Abstract: Ehlers-Danlos syndrome (EDS) is a heterogeneous group of congenital connective tissue diseases caused by mutations in genes involved in the synthesis or processing of collagen fibers. The phenotypic manifestations of EDS vary greatly, and mild… read more here.
Keywords: ultrasound findings; clinical ultrasound; danlos syndrome; ehlers danlos ... See more keywords
Total colectomy in Vascular Ehlers Danlos syndrome a case report and literature review
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Medicine and Surgery"
DOI: 10.1016/j.amsu.2021.102948
Abstract: Introduction Ehlers Danlos syndromes (EDS) are a group of genetic disorders, characterized by skin hyperelasticity, joint hyperlaxity and tissue weakness. Vascular EDS is rare and is differs from other types of EDS by an inconsistent… read more here.
Keywords: perforation; danlos syndrome; case; vascular ehlers ... See more keywords
Inter-segmental coordination amplitude and variability differences during gait in patients with Ehlers-Danlos syndrome and healthy adults.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical biomechanics"
DOI: 10.1016/j.clinbiomech.2021.105515
Abstract: BACKGROUND There is limited research examining gait and inter-segmental coordination in patients with Ehlers-Danlos syndrome. The objective was to compare lower extremity inter-segmental coordination amplitude and variability during gait between patients with Ehlers-Danlos syndrome and… read more here.
Keywords: coordination; inter segmental; segmental coordination; danlos syndrome ... See more keywords
Twin pregnancy with untyped Ehlers-Danlos syndrome requiring prompt genetic testing: A case report
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DOI: 10.1016/j.crwh.2022.e00384
Abstract: Ehlers-Danlos syndrome is a rare genetic disorder that presents with a variety of pathologies depending on the disease type. Among them, vascular Ehlers-Danlos syndrome requires extremely careful management as there have been many reports of… read more here.
Keywords: prompt genetic; ehlers danlos; twin pregnancy; danlos syndrome ... See more keywords
An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.103672
Abstract: Hypermobile Ehlers Danlos Syndrome (hEDS) is a multifaceted disorder that is difficult to diagnose and manage primarily due to the unknown causes. Research on hEDS continues to evolve but tangible progress will be realized when… read more here.
Keywords: connective tissue; danlos syndrome; ehlers danlos; hypermobile ehlers ... See more keywords