3,647 results match your criteria Ehlers-Danlos Syndrome


Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.

Hum Mol Genet 2018 Jun 20. Epub 2018 Jun 20.

Center for Medical Genetics Ghent,Ghent University Hospital, Ghent, Belgium.

Proteoglycans are among the most abundant and structurally complex biomacromolecules and play critical roles in connective tissues. They are composed of a core protein onto which glycosaminoglycan (GAG) side chains are attached via a linker region. Biallelic mutations in B3GALT6, encoding one of the linker region glycosyltransferases, are known to cause either spondyloepimetaphyseal dysplasia (SEMD) or a severe pleiotropic form of Ehlers-Danlos syndromes (EDS). Read More

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Vascular Ehlers-Danlos Syndrome: An Unusual Cause of Chronic Intestinal Failure in a Child.

J Pediatr Gastroenterol Nutr 2018 Jun 20. Epub 2018 Jun 20.

Clinical Nutrition unit, Department of Gastroenterology, The Royal Children's Hospital, Melbourne, Australia.

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The extracellular matrix glycoprotein Tenascin-X regulates peripheral sensory and motor neurones.

J Physiol 2018 Jun 19. Epub 2018 Jun 19.

Blizard Institute, Queen Mary University of London, London, U.K.

The extracellular matrix (ECM) is not only an integral structural molecule, but is also critical for a wide range of cellular functions. The glycoprotein tenascin-X (TNX) predominates in the ECM of tissues like skin and regulates tissue structure through anti-adhesive interactions with collagen. Monogenic TNX deficiency causes painful joint hypermobility and skin hyperelasticity, symptoms characteristic of hypermobility-Ehlers Danlos Syndrome (hEDS). Read More

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June 2018
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Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass.

Curr Osteoporos Rep 2018 Jun 18. Epub 2018 Jun 18.

Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, Poliambulatorio "Papa Giovanni Paolo II", 2nd Floor, Viale Padre Pio 7, 71013, San Giovanni Rotondo, Foggia, Italy.

Purpose Of Review: To summarize current evidence on the links between joint hypermobility (JH) and Ehlers-Danlos syndromes (EDS), with pain and reduced bone mass; to illustrate an updated approach to JH and EDS.

Recent Findings: In 2017, a novel classification for EDS and JH has been published. Increasing data demonstrate that pain is a major disability determinator in JH and EDS. Read More

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[Postural tachycardia syndrome (PoTS): An up-to-date].

Rev Med Interne 2018 Jun 13. Epub 2018 Jun 13.

Service de neurologie, France; Institut National de la santé et de la recherche médicale (Inserm), UMR1048, France.

Postural tachycardia syndrome (PoTS) is a multifactorial syndrome defined by an increase in heart rate ≥30bpm, within 10minutes of standing (or during a head up tilt test to at least 60°), in absence of orthostatic hypotension. It is associated with symptoms of cerebral hypoperfusion that are worse when upright and improve in supine position. Patients have an intense fatigue with a high incidence on quality of life. Read More

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Spectrum of Gastrointestinal Manifestations in Joint Hypermobility Syndromes.

Am J Med Sci 2018 Jun 5;355(6):573-580. Epub 2018 Mar 5.

Division of Gastroenterology, Texas Tech University Health Sciences Center, El Paso, Texas. Electronic address:

Joint hypermobility is a common, primarily benign finding in the general population. However, in a subset of individuals joint hypermobility causes a range of clinical problems mainly affecting the musculoskeletal system and, to a lesser extent, extra-articular disorders. Joint hypermobility often appears as a familial trait and is shared by several inherited connective tissue disorders, including the hypermobility subtype of Ehlers-Danlos syndrome (hEDS) and benign joint hypermobility syndrome (BJHS/JHS). Read More

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Hepatobiliary and Pancreatic: Spontaneous hepatic hemorrhage caused by Ehlers-Danlos syndrome.

Authors:
Q Luo Z Pang C Liu X Liu

J Gastroenterol Hepatol 2018 Jun 11. Epub 2018 Jun 11.

Department of General Surgery, Second Affiliated Hospital of Zhengzhou University, Zhengzhou City, China.

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and coinfection in the setting of ulcerative colitis.

BMJ Case Rep 2018 Jun 6;2018. Epub 2018 Jun 6.

Internal Medicine, CHI Health Creighton University Medical Center Bergan Mercy, Omaha, Nebraska, USA.

A 66-year-old woman presented with 2 days of fever and severe diarrhoea. She has a history of ulcerative colitis (UC), well controlled with medication. She also has a history of Ehlers-Danlos syndrome, infective endocarditis following aortic valve replacement and pulmonary embolism. Read More

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June 2018
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Arthroscopic Anterior and Posterior Glenoid Bone Augmentation With Capsular Plication for Ehlers-Danlos Syndrome With Multidirectional Instability.

Arthrosc Tech 2018 May 23;7(5):e541-e545. Epub 2018 Apr 23.

Department of Orthopaedic Surgery, Dalhousie University and Nova Scotia Health Authority, Halifax, Nova Scotia, Canada.

Recurrent multidirectional shoulder instability is a difficult clinical problem. This can be compounded in patients with connective tissue diseases such as Ehlers-Danlos syndrome. We present an all-arthroscopic technique involving extra-articular anterior and posterior glenoid bone grafting to augment a capsular repair in a patient with Ehlers-Danlos syndrome and recurrent multidirectional shoulder instability. Read More

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A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement.

Cardiovasc Pathol 2018 Jul - Aug;35:48-51. Epub 2018 Apr 24.

University of Notre Dame, 32 Mouat Street, Fremantle, Western Australia, 6160. Electronic address:

Ehlers-Danlos Syndrome comprises a heterogeneous group of heritable connective tissue disorders resulting from various gene mutations. We present an unusual case of vascular Ehlers-Danlos Syndrome with distinctive physical characteristics and a cardiomyopathy with features suggesting isolated left ventricular non-compaction. The cardiac features represent the first report of a cardiomyopathy associated with a mutation in the COL3A1 gene. Read More

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Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome.

Horm Res Paediatr 2018 May 7:1-10. Epub 2018 May 7.

National Institutes of Health Clinical Center and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.

Mutations of the CYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). The CYP21A2 gene is partially overlapped by the TNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles of TNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). Read More

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May 2018
2 Reads

Ex vivo nonlinear microscopy imaging of Ehlers-Danlos syndrome-affected skin.

Arch Dermatol Res 2018 Jul 3;310(5):463-473. Epub 2018 May 3.

Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 41 Mária Street, Budapest, 1085, Hungary.

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 in the late 1970s and early 1980s. Since that time, the classification of EDS has undergone significant changes, yet the description of the histological features of collagen morphology in different EDS subtypes has endured the test of time. Read More

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Evaluation of postural tachycardia syndrome (POTS).

Authors:
Brent P Goodman

Auton Neurosci 2018 Apr 22. Epub 2018 Apr 22.

Department of Neurology, Mayo Clinic, Scottsdale, AZ 85260, USA. Electronic address:

The diagnostic evaluation of a patient with suspected postural tachycardia syndrome (POTS) requires a thoughtful diagnostic approach utilizing a careful clinical history and examination, laboratory, and autonomic testing. This article outlines the importance of a thorough history in identifying mechanism of symptom onset, clinical features, associated clinical conditions or disorders, and factors that may result in symptom exacerbation. The clinical examination involves an assessment of pupillary responses, an evaluation for sudomotor and vasomotor signs, and an assessment for joint hypermobility. Read More

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April 2018
1 Read

Rheumatological presentation of Bartonella koehlerae and Bartonella henselae bacteremias: A case report.

Medicine (Baltimore) 2018 Apr;97(17):e0465

Intracellular Pathogens Research Laboratory, Comparative Medicine Institute, College of Veterinary Medicine, North Carolina State University, Raleigh, NC.

Introduction: Systemic Bartonella spp. infections are being increasingly reported in association with complex medical presentations. Individuals with frequent arthropod exposures or animal contact appear to be at risk for acquiring long standing infections with Bartonella spp. Read More

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April 2018
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Vascular Ehlers-Danlos Syndrome Presenting as a Pulsatile Neck Mass: a Case Report and Review of Literature.

J Gen Intern Med 2018 Apr 26. Epub 2018 Apr 26.

Department of Medicine, University of California, San Francisco Medical Center, San Francisco, CA, USA.

Ehlers-Danlos syndrome refers to a spectrum of connective tissue disorders typically caused by mutations in genes responsible for the synthesis of collagen. Patients with Ehlers-Danlos syndrome often exhibit hyperflexibility of joints, increased skin elasticity, and tissue fragility. Vascular Ehlers-Danlos (vEDS) is a subtype of Ehlers-Danlos syndrome with a predilection to involve blood vessels. Read More

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April 2018
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Bowel perforation in type IV vascular Ehlers-Danlos syndrome. A systematic review.

Tech Coloproctol 2018 May 26;22(5):333-341. Epub 2018 Apr 26.

Digestive and Endocrine Surgery Clinic, Institute of Digestive Diseases, University Hospital of Nantes, CHU Hôtel Dieu, 1, Place Alexis Ricordeau, 44035, Nantes, France.

Spontaneous gastrointestinal (GI) perforation is a well-known complication occurring in patients suffering from Type IV vascular Ehlers-Danlos syndrome (EDS IV). The aim of the present study was to review the current literature on spontaneous GI perforation in EDS IV and illustrate the surgical management and outcome when possible. A systematic review of all the published data on EDS IV patients with spontaneous GI perforation between January 2000 and December 2015 was conducted using three major databases PUBMED, EMBASE, and Cochrane Central Register of Controlled Trails. Read More

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Higher prevalence of joint hypermobility in constipation predominant irritable bowel syndrome.

Neurogastroenterol Motil 2018 Apr 23:e13353. Epub 2018 Apr 23.

Division of Gastroenterology and Hepatology, University Hospital Zurich, Zurich, Switzerland.

Background: Joint hypermobility syndrome (JHS) is characterized by excessive connective tissue laxity manifest as joint hypermobility (JH) together with musculoskeletal symptoms. Previous studies have shown an association between JH/JHS and gastrointestinal symptoms, including irritable bowel syndrome (IBS), although its association with specific IBS subtypes is incompletely understood. We aimed to determine the prevalence of JH according to the subtypes of IBS, in particular IBS-C and IBS-D. Read More

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Can H -receptor upregulation and raised histamine explain an anaphylactoid reaction on cessation of ranitidine in a 19-year-old female? A case report.

Br J Clin Pharmacol 2018 Jul 18;84(7):1611-1616. Epub 2018 Apr 18.

Pharmacology, Leicester School of Pharmacy, De Montfort University, Leicester, UK.

The anaphylactoid reaction described follows cessation of ranitidine in a 19-year-old female with the disease cluster: mast cell activation syndrome, hypermobile Ehlers-Danlos syndrome and postural tachycardia syndrome. Anaphylaxis can give wide-ranging symptoms from rhinorrhoea and urticaria to tachycardia and system-wide, life-threatening, anaphylactic shock. Individuals with a disorder of mast cell activation can experience many such symptoms. Read More

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July 2018
3 Reads

Knee joint instability after total knee replacement in a patient with Ehlers-Danlos syndrome: the role of insert changes as practical solution.

BMJ Case Rep 2018 Apr 17;2018. Epub 2018 Apr 17.

Orthopaedic Surgery, HagaZiekenhuis, The Hague, The Netherlands.

Treatment of knee joint instability in patients with hypermobile Ehlers-Danlos syndrome (EDS) can be challenging. A 53-year-old woman with hypermobile EDS underwent bilateral total knee replacement (TKR) due to valgus osteoarthritis. During follow-up, she developed hypermobility of both knee replacements. Read More

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April 2018
2 Reads

The prevalence of generalized and syndromic hypermobility in elite Australian dancers.

Phys Ther Sport 2018 Mar 2;32:15-21. Epub 2018 Mar 2.

The University of Sydney, Discipline of Biomedical Science, Sydney Medical School, New South Wales, Australia. 75 East St, Lidcombe, New South Wales, 1825, Australia. Electronic address:

Objectives: To determine the prevalence of Generalized Joint Hypermobility (GJH) and Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT) among dancers using established validated measures.

Design: Observational Cohort Study.

Setting: Laboratory. Read More

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Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection.

Circ Genom Precis Med 2018 Apr;11(4):e001933

Background: Previous studies describing genetics evaluation in spontaneous coronary artery dissection (SCAD) have been retrospective in nature or presented as single case reports. As part of a dedicated clinical program, we evaluated patients in cardiovascular genetics clinic to determine the role of genetically triggered vascular disease and genetic testing in SCAD.

Methods And Results: Patient data were entered prospectively into the Massachusetts General Hospital SCAD registry database from July 2013 to September 2017. Read More

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April 2018
4 Reads

[S2-Guideline: Pediatric Flat Foot].

Z Orthop Unfall 2018 Apr 9. Epub 2018 Apr 9.

Orthopädische Klinik, Klinikum Stuttgart Olgahospital und Frauenklinik, Stuttgart.

In pediatric flat foot a differentiation has to be made between the flexible and the rigid form. The diagnosis is based on the history, clinical examination as well as pedobarography, gait analysis and imaging techniques. It is important to rule out neuropediatric conditions such as muscular dystrophies, Ehlers-Danlos- or Marfan syndrome. Read More

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April 2018
1 Read

Biomechanical properties of the patellar tendon in children with heritable connective tissue disorders.

Eur J Appl Physiol 2018 Apr 5. Epub 2018 Apr 5.

Institute of Sports Medicine, Department of Orthopaedic Surgery M, Bispebjerg Hospital and Center for Healthy Aging, Faculty of Health and Medical Sciences, University of Copenhagen, Bispebjerg Bakke 23, 2400, Copenhagen, Denmark.

Purpose: Hereditary connective tissue disorders (HCTDs), such as classic Ehlers-Danlos syndrome (cEDS) and Marfan syndrome (MS) share overlapping features like hypermobility and tissue fragility. In clinical practice it remains a challenge to distinguish children and adolescents with HCTD from healthy children. The purpose of this study was to investigate the biomechanical properties of the patellar tendon and joint laxity (Beighton score) in children with HCTDs (n = 7) compared to healthy controls (n = 14). Read More

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April 2018
4 Reads

Spinal Anaesthesia for Cesarean Section in a Patient with Vascular Type Ehlers-Danlos Syndrome.

Case Rep Anesthesiol 2018 28;2018:1924725. Epub 2018 Jan 28.

Department of Anesthesiology, Naval Medical Center Portsmouth, Portsmouth, VA, USA.

We report the administration of spinal anaesthesia for cesarean delivery in a parturient with vascular Ehlers-Danlos syndrome. Parturients who genetically inherit this disorder are at risk for significant morbidity and mortality. Risks during pregnancy include premature labor, uterine prolapse, and uterine rupture. Read More

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January 2018
4 Reads

On being an internist in emergency medicine: a rare case of epigastric pain.

Intern Emerg Med 2018 Apr 4. Epub 2018 Apr 4.

Internal and Subintensive Medicine Department, Azienda Ospedaliero-Universitaria "Ospedali Riuniti"-Ancona, Via Conca n°10, Ancona, Italy.

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April 2018
5 Reads

Thoracoabdominal aortic replacement in patients aged 50 and younger.

Gen Thorac Cardiovasc Surg 2018 Apr 2. Epub 2018 Apr 2.

National Cerebral and Cardiovascular Center, Suita, Japan.

Objective: Open repair of a thoracoabdominal aortic aneurysm (TAAA) has been regarded as one of the most invasive procedures in cardiovascular surgery. Conversely, endovascular technology currently enables the repair of the thoracoabdominal aorta, and this approach is less invasive. However, the long-term durability of this method of endovascular repair remains unknown. Read More

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April 2018
3 Reads

Sleep Disorders and Their Management in Children With Ehlers-Danlos Syndrome Referred to Sleep Clinics.

J Clin Sleep Med 2018 Apr 15;14(4):623-629. Epub 2018 Apr 15.

Division of Pulmonary and Sleep Medicine, Cincinnati Children's Hospital, Cincinnati, Ohio.

Study Objectives: The nature of sleep disorders in children with Ehlers-Danlos syndrome (EDS) is unknown. We aimed to describe the type, the management, and the short-term outcome of sleep disorders in children with EDS referred to sleep clinics.

Methods: This is a retrospective review of medical records and polysomnography tests of children with EDS younger than 18 years who were referred to the sleep clinic. Read More

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April 2018
6 Reads

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

Am J Hum Genet 2018 Apr 29;102(4):696-705. Epub 2018 Mar 29.

Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL 32224, USA. Electronic address:

AEBP1 encodes the aortic carboxypeptidase-like protein (ACLP) that associates with collagens in the extracellular matrix (ECM) and has several roles in development, tissue repair, and fibrosis. ACLP is expressed in bone, the vasculature, and dermal tissues and is involved in fibroblast proliferation and mesenchymal stem cell differentiation into collagen-producing cells. Aebp1 mice have abnormal, delayed wound repair correlating with defects in fibroblast proliferation. Read More

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April 2018
4 Reads

Novel Nonsense Mutation in Initially Presenting as Myopathy: Case Report and Review of the Literature.

Mol Syndromol 2018 Feb 24;9(2):100-109. Epub 2018 Jan 24.

Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.

Myopathies comprise a heterogeneous group of disorders characterized by variable phenotypes. The increasing use of next-generation sequencing allows identification of the causative genes in a much higher percentage of patients with hereditary muscle disorders and also illustrates a considerable degree of overlap with other clinical entities, including connective tissue disorders. Here, we present a 14-year-old German patient who was initially suspected to suffer from myopathy based on his clinical, radiological, and muscle biopsy findings. Read More

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February 2018
1 Read

Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.

Int J Mol Sci 2018 Mar 26;19(4). Epub 2018 Mar 26.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, 25123 Brescia, Italy.

The αvβ3 integrin, an endothelial cells' receptor-binding fibronectin (FN) in the extracellular matrix (ECM) of blood vessels, regulates ECM remodeling during migration, invasion, angiogenesis, wound healing and inflammation, and is also involved in the epithelial mesenchymal transition. In vitro-grown human control fibroblasts organize a fibrillar network of FN, which is preferentially bound on the entire cell surface to its canonical α5β1 integrin receptor, whereas the αvβ3 integrin is present only in rare patches in focal contacts. We report on the preferential recruitment of the αvβ3 integrin, due to the lack of FN-ECM and its canonical integrin receptor, in dermal fibroblasts from Ehlers-Danlos syndromes (EDS) and arterial tortuosity syndrome (ATS), which are rare multisystem connective tissue disorders. Read More

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March 2018
3 Reads

Testicular torsion in a patient with Ehlers-Danlos syndrome.

BMJ Case Rep 2018 Mar 22;2018. Epub 2018 Mar 22.

Department of Anaesthetics, Galway Clinic, Galway, Ireland.

We present a 19-year-old man with a diagnosis of Ehlers-Danlos syndrome (EDS) and a delayed presentation of testicular torsion. EDS is a rare and heterogeneous condition affecting collagen synthesis and presents multiple difficulties in a surgical setting. Management of this case of testicular torsion was complicated by impaired cognition of the patient, difficulty with intubation, a contralateral undescended testis and postoperative bleeding. Read More

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March 2018
2 Reads

Morphometric analysis of cornea in the Slc39a13/Zip13-knockout mice.

J Vet Med Sci 2018 May 22;80(5):814-818. Epub 2018 Mar 22.

Laboratory of Microanatomy, School of Veterinary Medicine, Rakuno Gakuen University, Ebetsu, Hokkaido 069-8501, Japan.

Ehlers-Danlos syndrome (EDS) is a group of hereditary diseases caused by mutation of extracellular matrix-related genes. Recently, spondylodysplastic EDS-Zip13 (spEDS-Zip13: OMIM 612350) was recognized as a new EDS type. This current study could reveal various morphometric differences of collagenous population in the proper substance of cornea between the wild type and spEDS-Zip13-knockout (Zip13-KO) mice. Read More

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May 2018
1 Read

A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility.

Behav Sci (Basel) 2018 Mar 17;8(3). Epub 2018 Mar 17.

Department of Biomedical Sciences, University of South Carolina School of Medicine Greenville, Greenville, SC 29605, USA.

Reports suggest comorbidity between autism spectrum disorder (ASD) and the connective tissue disorder, Ehlers-Danlos syndrome (EDS). People with EDS and the broader spectrum of Generalized Joint Hypermobility (GJH) often present with immune- and endocrine-mediated conditions. Meanwhile, immune/endocrine dysregulation is a popular theme in autism research. Read More

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March 2018
6 Reads

Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.

Intractable Rare Dis Res 2018 Feb;7(1):37-41

Key Laboratory for Rare & Uncommon Diseases of Shandong Province, Shandong Medicinal Biotechnology Centre, Shandong Academy of Medical Sciences, Ji'nan, China.

Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Read More

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February 2018
1 Read

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.

Matrix Biol 2018 Mar 15. Epub 2018 Mar 15.

Center for Medical Genetics, Ghent University and University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address:

Type III collagen is a major fibrillar collagen consisting of three identical α(III)-chains that is particularly present in tissues exhibiting elastic properties, such as the skin and the arterial wall. Heterozygous mutations in the COL3A1 gene result in vascular Ehlers-Danlos syndrome (vEDS), a severe, life-threatening disorder, characterized by thin, translucent skin and propensity to arterial, intestinal and uterine rupture. Most human vEDS cases result from a missense mutation substituting a crucial glycine residue in the triple helical domain of the α(III)-chains. Read More

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March 2018
1 Read

Gastrointestinal symptoms in postural tachycardia syndrome: a systematic review.

Clin Auton Res 2018 Mar 16. Epub 2018 Mar 16.

Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, 506 RRB, 2222 Pierce Ave, Nashville, TN, 37232, USA.

Gastrointestinal symptoms are among the most common complaints in patients with postural tachycardia syndrome (POTS). In some cases, they dominate the clinical presentation and cause substantial disabilities, including significant weight loss and malnutrition, that require the use of invasive treatment to support caloric intake. Multiple cross-sectional studies have reported a high prevalence of gastrointestinal symptoms in POTS patients with connective tissue diseases, such as Ehlers-Danlos, hypermobile type, and in patients with evidence of autonomic neuropathy. Read More

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March 2018
3 Reads

Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

Congenit Anom (Kyoto) 2018 Mar 9. Epub 2018 Mar 9.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

Ehlers-Danlos syndrome classical type is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with Ehlers-Danlos syndrome classical type. Read More

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March 2018
2 Reads

Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

Auton Neurosci 2018 Mar 5. Epub 2018 Mar 5.

Department of Pediatrics, Johns Hopkins University School of Medicine, 200 N. Wolfe St., Room 2077, Baltimore, MD 21287, USA. Electronic address:

Objective: To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research.

Methods: We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance.

Results: We identified 10 relevant papers. Read More

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March 2018
7 Reads

[Severe Mast Cell Activation Syndrome in a 15-year-old patient with an hypermobile Ehlers-Danlos syndrome].

Rev Med Liege 2018 Feb;73(2):61-64

Service de Rhumatologie, Université Catholique de Louvain, Bruxelles, Belgique.

We report the history of a 15-year old patient with a hypermobile Ehlers-Danlos syndrome (hEDS) (his mother, his two brothers and his sister have the same phenotype as him). He suffers mainly from a severe mast cell activation syndrome (MCAS) with an overreaction of the skin to any kind of contact (water of the shower, clothes, bed sheets) but he has also fatigue, headaches, and rash. This impressive rash is exacerbated after the shower and he has the urge to rest («shower's sign»). Read More

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February 2018
2 Reads

Suspicious scars: physical child abuse vs Ehlers-Danlos syndrome.

Autops Case Rep 2018 Jan-Mar;8(1):e2018008. Epub 2018 Feb 27.

National Cancer Institute, Department of Oncosurgery. Maharagama Colombo, Sri Lanka.

Child abuse is a sensitive topic among many medical practitioners and the diagnosis of this entity requires awareness about conditions which can mimic physical child abuse. Here, the authors present a case of a 13-year-old school non-attendee who was referred due to multiple scars, over areas prone to accidental as well as non-accidental injury, who underwent medicolegal examination due to suspicion of physical child abuse. On further inquiry, it was discovered that she had easy bruising and poor wound healing. Read More

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February 2018

Multiple fractures in infants who have Ehlers-Danlos/hypermobility syndrome and or vitamin D deficiency: A case series of 72 infants whose parents were accused of child abuse and neglect.

Dermatoendocrinol 2017 16;9(1):e1279768. Epub 2017 Feb 16.

Department of Medicine, Section of Endocrinology, Nutrition, and Diabetes, Vitamin D, Skin, and Bone Research Laboratory, Boston University Medical Campus, Boston, MA, USA.

: To increase the level of awareness that Ehlers-Danlos/hypermobility syndrome (EDS) and vitamin D deficiency are associated with infantile fragility fractures and radiologic features that may be mistakenly reported to be caused by non-accidental trauma due to Child Abuse and Neglect (CAN). : We constructed a case series, the largest to date, of infants with EDS who were vitamin D sufficient, insufficient and deficient and infants without EDS but with documented vitamin D deficiency and radiologic evidence of rickets who presented with multiple fractures originally diagnosed as being non-accidental and caused by child abuse. These infants were referred to the outpatient Bone Health Care Clinic at Boston University Medical Campus over a 6-year (2010-2015) period. Read More

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February 2017
2 Reads

Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center.

J Vasc Surg 2018 Mar 3. Epub 2018 Mar 3.

Division of Vascular Surgery, Department of Surgery, University of Washington, Seattle, Wash. Electronic address:

Objective: The contemporary practice of testing for genetically triggered aortic and arterial aneurysms and dissections is not well described. This study aimed to describe this practice at a tertiary care academic center and to ascertain the yield of testing in establishing the diagnosis in patients referred on the basis of clinical suspicion.

Methods: This is a retrospective cohort study of patients referred for vascular genetic testing at an academic medical center between 2010 and 2015. Read More

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March 2018
2 Reads

The Upper Limb Hypermobility Assessment Tool: A novel validated measure of adult joint mobility.

Musculoskelet Sci Pract 2018 06 22;35:38-45. Epub 2018 Feb 22.

The University of Sydney, Discipline of Biomedical Science, Sydney Medical School, 75 East St, Lidcombe, NSW 2141, Australia; The Hypermobility and Performance Laboratory, Bosch Institute, The University of Sydney, 75 East St, Lidcombe, NSW 2141, Australia. Electronic address:

Background: Existing measures of generalized joint hypermobility do not include commonly affected upper limb joints.

Objective: To evaluate the reliability of a novel clinically-applicable measure of upper limb joint mobility, its ability to discriminate between varying extents of hypermobility, identify generalized joint hypermobility, and to establish a cut-point for hypermobility classification.

Design: Validation of a diagnostic tool. Read More

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Low- and high-anxious hypermobile Ehlers-Danlos syndrome patients: comparison of psychosocial and health variables.

Rheumatol Int 2018 May 1;38(5):871-878. Epub 2018 Mar 1.

Department of Physical Medicine and Rehabilitation, Hôtel-Dieu Hospital, Paris, France.

Despite the frequent co-ocurrence of hypermobile Ehler-Danlos syndrome (hEDS) and pathological anxiety, little is known about the psychosocial and health implications of such comorbidity. Our aim was to explore the association between high levels of anxiety and psychosocial (catastrophizing, kinesiophobia, somatosensory amplification, social support and functioning), health (pain, fatigue, BMI, tobacco/alcohol use, depression, diagnosis delay, general health), and sociodemographic factors in people with hEDS. In this cross-sectional study, 80 hEDS patients were divided into two groups according to self-reported anxiety levels: low and high. Read More

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May 2018
5 Reads

Dendritic Cell Migration to Skin-Draining Lymph Nodes Is Controlled by Dermatan Sulfate and Determines Adaptive Immunity Magnitude.

Front Immunol 2018 8;9:206. Epub 2018 Feb 8.

Department of Molecular Cell Biology and Immunology, VU University Medical Center, Cancer Center Amsterdam, Amsterdam, Netherlands.

For full activation of naïve adaptive lymphocytes in skin-draining lymph nodes (LNs), presentation of peptide:MHC complexes by LN-resident and skin-derived dendritic cells (DCs) that encountered antigens (Ags) is an absolute prerequisite. To get to the nearest draining LN upon intradermal immunization, DCs need to migrate from the infection site to the afferent lymphatics, which can only be reached by traversing a collagen-dense network located in the dermis of the skin through the activity of proteolytic enzymes. Here, we show that mice with altered collagen fibrillogenesis resulting in thicker collagen fibers in the skin display a reduced DC migration to the draining LN upon immune challenge. Read More

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February 2018
4 Reads

Sudden onset of artery dissection in a 32-year-old woman with vascular Ehlers-Danlos syndrome due to psychological stress of her mother's death: a case series.

JA Clin Rep 2017 8;3(1):26. Epub 2017 May 8.

1Department of Anesthesiology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki, Osaka 569-8686 Japan.

Background: Patients with vascular Ehlers-Danlos syndrome (EDS) are susceptible to significant vascular complications, such as aortic and visceral arterial ruptures, aneurysms, and dissection. We describe a case of repeated bleeding in a 57-year-old woman and a case of sudden onset of artery dissection in her daughter, both of whom were previously diagnosed with vascular EDS and managed at our institution.

Case Presentation: A 57-year-old woman was admitted to our emergency department due to sudden onset of left low back pain. Read More

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May 2017
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Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome.

Childs Nerv Syst 2018 Jul 15;34(7):1411-1415. Epub 2018 Feb 15.

Department of Orthopedic Surgery, Maimonides Medical Center, 4802 Tenth Avenue, Brooklyn, NY, 11219, USA.

Background: Ehler-Danlos syndome (EDS) refers to a group of heritable connective tissue disorders; rare manifestations of which are cervical kyphosis and clinical myelopathy. Surgical treatment is described for the deformity in the thoracolumbar spine in adolescents but not for infantile cervical spine. Internal fixation for deformity correction in the infantile cervical spine is challenging due to the diminutive size of the bony anatomy and the lack of spinal instrumentation specifically designed for young children. Read More

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July 2018
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Attention-deficit/hyperactivity disorder, joint hypermobility-related disorders and pain: expanding body-mind connections to the developmental age.

Atten Defic Hyperact Disord 2018 Feb 14. Epub 2018 Feb 14.

Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.

Attention-deficit/hyperactivity disorder (ADHD) and generalized joint hypermobility (JH) are two separated conditions, assessed, and managed by different specialists without overlapping interests. Recently, some researchers highlighted an unexpected association between these two clinical entities. This happens in a scenario of increasing awareness on the protean detrimental effects that congenital anomalies of the connective tissue may have on human health and development. Read More

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February 2018
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ZIP13: A Study of Offers an Alternative Explanation for the Corresponding Human Disease.

Front Genet 2017 31;8:234. Epub 2018 Jan 31.

State Key Laboratory of Membrane Biology, School of Life Sciences, Tsinghua University, Beijing, China.

The fruit fly has become an important model organism to investigate metal homeostasis and human diseases. Previously we identified dZIP13 (CG7816), a member of the ZIP transporter family (SLC39A) and presumably a zinc importer, is in fact physiologically primarily responsible to move iron from the cytosol into the secretory compartments in the fly. This review will discuss the implication of this finding for the etiology of Spondylocheirodysplasia-Ehlers-Danlos Syndrome (SCD-EDS), a human disease defective in ZIP13. Read More

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January 2018
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