4,273 results match your criteria Ehlers-Danlos Syndrome

Letter to the Editor from Lao and Merke: "Ehlers-Danlos syndrome: molecular and clinical characterization of TNXA/TNXB chimeras in congenital adrenal hyperplasia".

J Clin Endocrinol Metab 2021 Apr 26. Epub 2021 Apr 26.

Section on Congenital Disorders, National Institutes of Health Clinical Center, Bethesda, MD.

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Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.

Clin Genet 2021 Apr 23. Epub 2021 Apr 23.

Clinique Dermatologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

Periodontal Ehlers-Danlos syndrome (pEDS) is a rare condition caused by pathogenic variants in the C1R and C1S genes, encoding subunits C1r and C1s of the first component of the classical complement pathway. It is characterized by early-onset periodontitis with premature tooth loss, pretibial hyperpigmentation and skin fragility. Rare arterial complications have been reported, but venous insufficiency is rarely described. Read More

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Multidisciplinary Treatment for Hypermobile Adolescents with Chronic Musculoskeletal Pain.

J Rehabil Med Clin Commun 2020 8;3:1000033. Epub 2020 May 8.

Department of Rehabilitation Medicine, Research School CAPHRI, Maastricht University, Maastricht, The Netherlands.

Background: To determine whether adolescents with generalized hypermobility spectrum disorder/ hypermobile Ehlers-Danlos syndrome (G-HSD/ hEDS) show changes in the level of disability, physical functioning, perceived harmfulness and pain intensity after completing multidisciplinary rehabilitation treatment.

Methods: Pre-test post-test design. Fourteen adolescents with G-HSD/hEDS participated. Read More

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Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders.

Am Fam Physician 2021 04;103(8):481-492

Gundersen Medical Foundation Family Medicine Residency, La Crosse, WI, USA.

Hypermobile Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorders are the most common symptomatic joint hypermobility conditions seen in clinical practice. The 2017 International Classification of the Ehlers-Danlos syndromes replaced previous terms for symptomatic joint hypermobility with hypermobile EDS and introduced the term hypermobility spectrum disorders for patients not meeting diagnostic criteria for hypermobile EDS. Both are diagnosed by applying the 2017 diagnostic criteria, which also excludes other less common conditions presenting with joint hypermobility such as other forms of EDS and heritable connective tissue disorders. Read More

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Vascular Ehlers-Danlos Syndrome: Treatment of a Complex Abdominal Wound with Vitamin C and Mesenchymal Stromal Cells.

Adv Skin Wound Care 2021 Apr 5. Epub 2021 Apr 5.

At the Royal Perth Hospital, Perth, Western Australia, David Andrew Prentice, MBBS, FRACP, is General Physician, Department of Internal Medicine; Wendy Ann Pearson, MNg, is Clinical Nurse Consultant, Stomal Therapy Service; and Janice Fogarty, MSc, is Medical Scientist in Charge: Cell and Tissue Therapy Department. Acknowledgments: The authors thank Dr Benedict Carnley of Cell and Tissue Therapy at Royal Perth Hospital, along with the extended multidisciplinary team including psychiatry, dietetics, pain specialists, general surgeons, intensivists, gastroenterologists, palliative care, pastoral care, social work, and the multitude of nurses who cared for this patient during his extended inpatient stays. Special thanks also to his wife whose dedication brought the patient home. The authors have disclosed no financial relationships related to this article. Submitted June 26, 2020; accepted in revised form September 21, 2020.

Abstract: Vascular Ehlers-Danlos syndrome (EDSv) can present with life-threatening surgical complications. The article describes the case of a patient with EDSv who developed total abdominal wound dehiscence and multiple enterocutaneous fistulas. Treatment with IV allogeneic mesenchymal stromal cells (MSCs) and high-dose vitamin C was trialed with success. Read More

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Opioid-free anesthesia for patients with joint hypermobility syndrome undergoing craneo-cervical fixation: a case-series study focused on anti-hyperalgesic approach.

Orphanet J Rare Dis 2021 Apr 13;16(1):172. Epub 2021 Apr 13.

Servei Central D'Anestesiología (Anestalia), Centro Médico Teknon, Carrer Vilana 12, 08022, Barcelona, Spain.

Background: Patients with Ehlers-Danlos Syndrome/Hypermobility Type (EDS-HT/JHS) and Craneo-Cervical Instability frequently suffer from severe widespread pain which is difficult to control. Chronic neuroinflammation, opioid-induced hyperalgesia, and central sensitization may explain this painful condition. The aim of this study was to determine if opioid-free anesthesia plus the postoperative administration of lidocaine, ketamine and dexmedetomidine can reduce postoperative pain and the need of methadone rescues in comparison with opioid-based management in these patients undergoing Craneo-Cervical Fixation (CCF). Read More

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Histopathologic characterization of molluscoid pseudotumor seen in Ehlers-Danlos syndrome.

Histopathology 2021 Apr 13. Epub 2021 Apr 13.

Department of Dermatology, St. Luke's University Health System, Temple School of Medicine, Bethlehem, Pennsylvania, USA.

Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogenous group of connective tissue disorders characterized by abnormal fibrillar collagen synthesis or abnormalities in proteins that interact with collagen. The basic clinical hallmarks of EDS are joint hypermobility, skin hyperextensibility, and tissue fragility. Molluscoid pseudotumors are a characteristic dermatologic feature of the classical EDS subtype and serve as a minor criterion in its diagnosis. Read More

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Aortic rupture by an acute dissection of the thoracoabdominal aorta in a 12-year-old boy.

Ann Vasc Surg 2021 Apr 6. Epub 2021 Apr 6.

Physician in the Angiology and Vascular Surgery Department, San Carlos Clinical Hospital, Madrid.

Aortic dissection is exceptional in children. When they are affected, many clinical conditions as Marfan syndrome or Ehlers-Danlos syndrome are usually involved, but up to 22% have no associated background. Its high morbidity and low incidence in this age group require a high level of suspicion in children without predisposing factors when the presentation is atypical, to avoid the severe consequences of the delay of their diagnosis. Read More

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Finger orthoses for management of joint hypermobility disorders: Relative effects on hand function and cognitive load.

Prosthet Orthot Int 2021 Feb;45(1):36-45

1Ortos A/S, Odense, Denmark 2Ortos A/S, Kolding, Denmark 3CHILD Research Group, School of Health and Welfare, Jönköping University, Jönköping, Sweden.

Background: Joint hypermobility refers to joints that move beyond their normal limits. Individuals with hypermobility of the fingers experience difficulties in activities of daily living. Finger orthoses are available for managing hypermobility of the fingers, but their effectiveness has received little attention in scholarly literature. Read More

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February 2021

Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.

Mol Genet Genomic Med 2021 Apr 8:e1632. Epub 2021 Apr 8.

Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, PR China.

Background: Classical Ehlers-Danlos syndrome (cEDS) is a heterogeneous connective tissue disorder that mainly results from the germline mutation of COL5A1 and COL5A2. The majority of the COL5A2 mutations reported to date represent structural mutations, including missense or in-frame exon-skipping splice mutations. The only reported synonymous mutation was expected to affect on splicing of exon 29 by prediction programs which should be further confirmed. Read More

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Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Am J Med Genet A 2021 Apr 7. Epub 2021 Apr 7.

Arizona Cancer Center, University of Arizona, Tucson, Arizona, USA.

The hypermobile Ehlers-Danlos syndrome (hEDS) GENE study is a multicenter, cohort study with the goal to identify genes associated with hypermobile EDS. Of the 148 people enrolled in the hEDS GENE study, 98 meet the 2017 hEDS criteria, 27 have a hypermobility spectrum disorder (HSD) and 23 are asymptomatic family members. More than 80% of participants are female with an average age of 41 years. Read More

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Ehlers-Danlos syndrome-associated craniocervical instability with cervicomedullary syndrome: Comparing outcome of craniocervical fusion with occipital bone versus occipital condyle fixation.

J Craniovertebr Junction Spine 2020 Oct-Dec;11(4):287-292. Epub 2020 Nov 26.

Department of Neurosurgery, Hofstra School of Medicine, North Shore University Hospital, Manhasset, NY, USA.

Introduction: Ehlers-Danlos syndrome (EDS) predisposes to craniocervical instability (CCI) with resulting cranial settling and cervicomedullary syndrome due to ligamentous laxity. This study investigates possible differences in radiographic outcomes and operative complication rate between two surgical techniques in patients with EDS and CCI undergoing craniocervical fusion (CCF): occipital bone (OB) versus occipital condyle (OC) fixation.

Methods: A retrospective search of the institutional operative database between January 07, 2017, and December 31, 2019, was conducted to identify EDS patients who underwent CCF with either OB (Group OB) or OC (Group OC) fixation. Read More

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November 2020

N-Terminomics Highlights Novel Functions of ADAMTS2 and ADAMTS14 in Skin Collagen Matrix Building.

Front Mol Biosci 2021 19;8:643178. Epub 2021 Mar 19.

Laboratory of Connective Tissues Biology, GIGA-Cancer, University of Liège, Liège, Belgium.

A disintegrin and metalloproteinase with thrombospondin type I motif (ADAMTS)2 and ADAMTS14 were originally known for their ability to cleave the aminopropeptides of fibrillar collagens. Previous work using N-terminomic approach (N-TAILS) led to the identification of new substrates, including some molecules involved in TGF-β signaling. Here, N-TAILS was used to investigate the substrates of these two enzymes , by comparing the N-terminomes of the skin of wild type mice, mice deficient in ADAMTS2, in ADAMTS14 and in both ADAMTS2 and ADAMTS14. Read More

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Shoulder Arthroplasty is a Viable Option in Patients with Ehlers-Danlos Syndrome.

J Shoulder Elbow Surg 2021 Mar 31. Epub 2021 Mar 31.

Department of Orthopaedic Surgery, Mayo Clinic Jacksonville, FL. Electronic address:

Background: Patients with Ehlers-Danlos Syndrome (EDS) have high rates of shoulder instability, which place them at increased risk for instability-related arthropathy. Many studies have assessed outcomes for both primary and revision shoulder instability procedures in this patient population but there is a paucity of data regarding the outcome of shoulder arthroplasty in EDS patients. The purpose of this study is to evaluate the results and complications of shoulder arthroplasty (SA) performed in a cohort of patients with EDS and compare them to a matched cohort of patients with no EDS. Read More

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A Case of Diffuse Pulmonary Ossification with Connective Tissue Weakness Potentially Due to Vascular Ehlers-Danlos Syndrome.

Intern Med 2021 Mar 29. Epub 2021 Mar 29.

Division of Diagnostic Pathology, Saitama Prefectural Cardiovascular and Respiratory Center, Japan.

A 30-year-old non-smoking man was referred to our hospital for the further examination of abnormal shadows revealed by chest X-ray. He had mild shortness of breath. Chest computed tomography revealed a fine-grained dendritic shadow with diffuse calcification in both lungs and as well as emphysematous changes in the upper lung lobes. Read More

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A case of vascular Ehlers-Danlos syndrome with a ruptured hepatic artery after surgical treatment of peritonitis caused by the perforation of the colon.

Surg Case Rep 2021 Mar 23;7(1):74. Epub 2021 Mar 23.

Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, 1-1-5, Sendagi, Bunkyo-ku, Tokyo, 113-8603, Japan.

Background: Ehlers-Danlos syndrome (EDS) is an inherited disorder that causes connective tissue fragility. The vascular type of EDS (vEDS) caused by defective collagen type III production accounts for 5%-10% of all EDS cases. Patients can develop gastrointestinal or arterial ruptures, which cause poor prognosis. Read More

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Multiple odontogenic keratocysts in Ehlers-Danlos syndrome: a rare case report.

BMC Oral Health 2021 03 9;21(1):107. Epub 2021 Mar 9.

Division of Radiotherapy, IEO European Institute of Oncology, IRCCS, 435 Ripamonti Street, 20-141, Milan, Italy.

Background: An odontogenic keratocyst is a lesion characterized by aggressive and infiltrative growth. The lesion is characterized by the existence of satellite microcysts (microtumours) and frequent recurrence (up to 30%). Ehlers-Danlos syndrome is a condition in which collagen production or its post-translational modifications are affected. Read More

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Noniatrogenic Medial Patellar Dislocations: Case Series and International Patellofemoral Study Group Experience.

Orthop J Sports Med 2021 Feb 26;9(2):2325967120985530. Epub 2021 Feb 26.

Department of Orthopaedic Surgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Background: Most patellar dislocations occur in a lateral direction because of a summed lateral force vector and predisposing anatomic risk factors. Medial patellar instability is rare and is a well-recognized iatrogenic complication of an overly aggressive lateral retinacular release. Noniatrogenic medial patellar dislocations are rare. Read More

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February 2021

Inferior vena cava aneurysm in a patient with Ehlers-Danlos syndrome.

J Cardiovasc Comput Tomogr 2021 Mar 13. Epub 2021 Mar 13.

Royal Brompton and Harefield NHS Foundation Trust, UK; National Heart and Lung Institute, Imperial College London, UK.

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Practical management strategies for benign hypermobility syndromes.

Deeba Minhas

Curr Opin Rheumatol 2021 May;33(3):249-254

Department of Internal Medicine, Division of Rheumatology, University of Michigan, Ann Arbor, Michigan, USA.

Purpose Of Review: Patients with symptomatic hypermobility syndrome such as hypermobile Ehlers-Danlos syndromes (hEDS) and hypermobility spectrum disorders (HSD) commonly present to rheumatologists with joint pain and functional disability. Providers often have difficulty with diagnosis due to a lack of knowledge on the range of associated manifestations and the available therapeutic modalities. This review will discuss recent updates on diagnostic measures and treatment options for rheumatologists to help patients navigate hEDS/HSD. Read More

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More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.

Hum Mutat 2021 Mar 19. Epub 2021 Mar 19.

Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University Hospital, Ghent University, Ghent, Belgium.

Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder characterized by corneal thinning and fragility, leading to corneal rupture, the main hallmark of this disorder. Non-ocular symptoms include not only hearing loss but also signs of connective tissue fragility, placing it in the Ehlers-Danlos syndrome (EDS) spectrum. It is caused by biallelic pathogenic variants in ZNF469 or PRDM5, which presumably encode transcription factors for extracellular matrix components. Read More

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The Beighton Score as a measure of generalised joint hypermobility.

Rheumatol Int 2021 Mar 18. Epub 2021 Mar 18.

Faculty of Health and Life Sciences, School of Psychological, Social and Behavioural Sciences, Coventry University, Coventry, CV1 5FB, UK.

The Beighton Score (BS) is a set of manoeuvres in a nine-point scoring system, used as the standard method of assessment for Generalised Joint Hypermobility (GJH). It was originally developed as an epidemiological tool used in screening large populations for GJH, but later adopted as a clinical tool for diagnostic purposes. Its ability to truly reflect GJH remains controversial, as joints within the scoring system are predominantly of the upper limb and disregard many of the major joints, preventing a direct identification of GJH. Read More

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Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes.

Eur J Hum Genet 2021 Mar 19. Epub 2021 Mar 19.

Center of Medical Genetics, University of Antwerp & Antwerp University Hospital, Prins Boudewijnlaan 43, 2650, Edegem, Antwerp, Belgium.

The involvement of genetic factors in the pathogenesis of KC has long been recognized but the identification of variants affecting the underlying protein functions has been challenging. In this study, we selected 34 candidate genes for KC based on previous whole-exome sequencing (WES) and the literature, and resequenced them in 745 KC patients and 810 ethnically matched controls from Belgium, France and Italy. Data analysis was performed using the single variant association test as well as gene-based mutation burden and variance components tests. Read More

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Treatment of Severe Emotionally Unstable Personality Disorder with Comorbid Ehlers-Danlos Syndrome and Functional Neurological Disorder in an Inpatient Setting: A Case for Specialist Units without Restrictive Interventions.

Case Rep Psychiatry 2021 25;2021:6664666. Epub 2021 Feb 25.

Springbank Ward, Cambridgeshire and Peterborough Mental Health Partnership NHS Trust, Fulbourn, Cambridge CB21 5EF, UK.

We present the case of a young woman with an Emotionally Unstable Personality Disorder (EUPD) diagnosis suffering from high-risk self-injurious behaviour. She was also diagnosed with Ehlers-Danlos Syndrome and Functional Neurological Disorder, manifesting as nonepileptic seizures and immobility. Our patient, "A," endured traumatic childhood abuse and became highly dependent on services in her late teens. Read More

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February 2021

Oxidative stress in genetically triggered thoracic aortic aneurysm: role in pathogenesis and therapeutic opportunities.

Redox Rep 2021 Dec;26(1):45-52

Discipline of Pathology and Charles Perkins Centre, The University of Sydney, Sydney, Australia.

The primary objective of this review was to explore the contribution of oxidative stress to the pathogenesis of genetically-triggered thoracic aortic aneurysm (TAA). Genetically-triggered TAAs manifest substantial variability in onset, progression, and risk of aortic dissection, posing a significant clinical management challenge. There is a need for non-invasive biomarkers that predict the natural course of TAA and therapeutics that prevent aneurysm progression. Read More

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December 2021

Further Evidence of a Recessive Variant in as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.

Glob Med Genet 2020 Dec 1;7(4):109-112. Epub 2021 Feb 1.

Center for Genetics and Inherited Diseases, Taibah University Almadinah Almunawwarah, Medina, Kingdom of Saudi Arabia.

Ehlers-Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous disorder of soft connective tissues. The hallmark clinical features of the EDS are hyperextensible skin, hypermobile joints, and fragile vessels. It exhibits associated symptoms including contractures of muscles, kyphoscoliosis, spondylodysplasia, dermatosparaxis, periodontitis, and arthrochalasia. Read More

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December 2020

Deconstructing and reconstructing joint hypermobility on an evo-devo perspective.

Marco Castori

Rheumatology (Oxford) 2021 Mar 1. Epub 2021 Mar 1.

Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

Joint hypermobility is a common characteristic in humans. Its non-casual association with various musculoskeletal complaints is known and currently defined as "the spectrum". It includes hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD). Read More

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