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    3486 results match your criteria Ehlers-Danlos Syndrome

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    Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort.
    Am J Med Genet A 2017 Apr 24. Epub 2017 Apr 24.
    Division of Human Genetics, Department of Pediatrics, Children's Hospital Medical Center, Cincinnati, Ohio.
    Hypermobile Ehlers-Danlos syndrome (hEDS) is a common inherited connective tissue disorder characterized by joint hypermobility. The natural history of aortic root dilation (AoD), a potential complication of EDS, has not been well characterized in this population. We describe the natural history of aortic root size in a large cohort of patients with hEDS. Read More

    Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.
    Am J Med Genet A 2017 Apr 24. Epub 2017 Apr 24.
    Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania.
    Heterozygous mutations in the genes encoding the proα1(I) or proα2(I) chains of type I procollagen (COL1A1 and COL1A2, respectively) account for most cases of osteogenesis imperfecta (OI), a disorder characterized by reduced bone strength and increased fracture risk. COL1A1 mutations can also cause rare cases of Ehlers-Danlos syndrome (EDS), a disorder that primarily affects connective tissue and often includes reduced bone mass. Here we present a kindred of three young siblings ages 1-4 years old whose mother has a history of mild type I OI. Read More

    The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study.
    Rheumatology (Oxford) 2017 Apr 18. Epub 2017 Apr 18.
    Department of Health Professions, Macquarie University.
    Objectives.: The objective of the manuscript was to describe the natural history of complaints and disability in children diagnosed with joint hypermobility syndrome (JHS)/Ehlers-Danlos-hypermobility type (EDS-HT) and to identify the constructs that underlie functional decline.

    Methods. Read More

    Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome.
    Sci Rep 2017 Apr 19;7:46565. Epub 2017 Apr 19.
    Department of Dermatology, Kochi Medical School, Nankoku 783-8505, Japan.
    Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschsprung disease. However, the skin manifestation(s) of patients with MOWS has not been documented in detail. Read More

    Collagen V haploinsufficiency in a murine model of classic Ehlers-Danlos syndrome is associated with deficient structural and mechanical healing in tendons.
    J Orthop Res 2017 Apr 7. Epub 2017 Apr 7.
    McKay Orthopaedic Research Laboratory, University of Pennsylvania, Philadelphia, Pennsylvania.
    Classic Ehlers-Danlos syndrome (EDS) patients suffer from connective tissue hyperelasticity, joint instability, skin hyperextensibility, tissue fragility, and poor wound healing due to heterozygous mutations in COL5a1 or COL5a2 genes. This study investigated the roles of collagen V in establishing structure and function in uninjured patellar tendons as well as in the injury response using a Col5a1(+/-) mouse, a model for classic EDS. These analyses were done comparing tendons from a classic EDS model (Col5a1(+/-) ) with wild-type controls. Read More

    A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
    Clin Genet 2017 Apr 6. Epub 2017 Apr 6.
    UOC Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy.
    Deletions encompassing TAK1-binding protein 2 (TAB2) associate with isolated and syndromic congenital heart defects. Rare missense variants are found in patients with a similar phenotype as well as in a single individual with frontometaphyseal dysplasia. We describe a family and an additional sporadic patient with polyvalvular heart disease, generalized joint hypermobility and related musculoskeletal complications, soft, velvety and hyperextensible skin, short limbs, hearing impairment, and facial dysmorphism. Read More

    Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.
    Pharmaceuticals (Basel) 2017 Mar 27;10(2). Epub 2017 Mar 27.
    Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan.
    The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor-β, respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyloepimetaphyseal dysplasia, and Meester-Loeys syndrome. Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity. Read More

    Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome.
    World J Med Genet 2016 May;6(2):17-21
    Department of Psychiatry, Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS 66160, United States.
    We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud's phenomenon, and hypermobility. She was found to have a 6074A > T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classified as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as disease-causing. Read More


    The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome.
    Am J Med Genet C Semin Med Genet 2017 Mar;175(1):158-167
    New insights into the phenotype of Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome-hypermobile type (hEDS) have raised many issues in relation to classification, diagnosis, assessment, and treatment. Within the multidisciplinary team, physical therapy plays a central role in management of individuals with hypermobility related disorders. However, many physical therapists are not familiar with the diagnostic criteria, prevalence, common clinical presentation, and management. Read More

    Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.
    Am J Med Genet C Semin Med Genet 2017 Mar;175(1):40-47
    Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000-1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Initial diagnosis depends on the recognitions of clinical features, including family history. Read More

    Endovascular treatment of a dural arteriovenous fistula in a patient with Loeys-Dietz syndrome: A case report.
    Interv Neuroradiol 2017 Apr 23;23(2):206-210. Epub 2017 Jan 23.
    2 Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.
    Background Loeys-Dietz syndrome (LDS) is a recently recognized autosomal dominant connective tissue disease. The manifestations of LDS include vascular tortuosity, scoliosis, craniosynostosis, aneurysm and aortic dissections. Clinical presentation A 35-year-old woman treated with Stanford type B aortic dissection and breast cancer was referred to us for Borden type II dural arteriovenous fistula (dAVF) draining to the vein of Galen, involving the midline of tentorium cerebelli. Read More

    Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?
    Biomed Res Int 2017 12;2017:9161865. Epub 2017 Feb 12.
    Department of Heart and Great Vessels "A. Reale", Sapienza University of Rome, Rome, Italy.
    Background. Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional tests. Read More

    Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain.
    Am J Med 2017 Mar 10. Epub 2017 Mar 10.
    Division of Immunology, University of Iowa, Iowa City.
    Joint hypermobility syndrome, also known as benign hypermobility syndrome, is a connective tissue disease characterized by joint instability, chronic pain, and minor skin changes. It shares many clinical features of Ehlers-Danlos syndrome, Hypermobility Type; enough so that many authorities consider them as one disease process. Approximately 3% of the general population is believed to have joint hypermobility syndrome, but despite this high prevalence, due to lack of awareness, heterogeneity of clinical presentation, and reliance on physical examination for diagnosis, it is largely overlooked by primary care physicians as well as by specialists. Read More

    Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type.
    Am J Med Genet A 2017 Apr 7;173(4):914-929. Epub 2017 Mar 7.
    Unit of Clinical Genetics, San Camillo-Forlanini General Hospital, Rome, Italy.
    Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test. This descriptive research was aimed at better characterizing the clinical phenotype of JHS/EDS-HT with focus on available diagnostic criteria, and in order to propose novel features and assessment strategies. One hundred and eighty-nine (163 females, 26 males; age: 2-73 years) patients from two Italian reference centers were investigated for Beighton score, range of motion in 21 additional joints, rate and sites of dislocations and sprains, recurrent soft-tissue injuries, tendon and muscle ruptures, body mass index, arm span/height ratio, wrist and thumb signs, and 12 additional orthopedic features. Read More

    Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.
    Am J Med Genet A 2017 Apr 6;173(4):1047-1050. Epub 2017 Mar 6.
    Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
    Type I collagen is the predominant protein of connective tissues such as skin and bone. Mutations in the type I collagen genes (COL1A1 and COL1A2) mainly cause osteogenesis imperfecta (OI). We describe a patient with clinical signs of Ehlers-Danlos syndrome (EDS), including fragile skin, easy bruising, recurrent luxations, and fractures resembling mild OI. Read More

    Mast cell disorders in Ehlers-Danlos syndrome.
    Am J Med Genet C Semin Med Genet 2017 Mar 6;175(1):226-236. Epub 2017 Mar 6.
    Well known for their role in allergic disorders, mast cells (MCs) play a key role in homeostatic mechanisms and surveillance, recognizing and responding to different pathogens, and tissue injury, with an array of chemical mediators. After being recruited to connective tissues, resident MCs progenitors undergo further differentiation, under the influence of signals from surrounding microenvironment. It is the differential tissue homing and local maturation factors which result in a diverse population of resident MC phenotypes. Read More

    Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
    J Med Genet 2017 Mar 3. Epub 2017 Mar 3.
    Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels, Belgium
    Background: Collagens are one of the major constituents of the pial membrane, which plays a crucial role in neuronal migration and cortical lamination during brain development. Type III procollagen, the chains of which are encoded by COL3A1, is the ligand of the G protein-coupled receptor 56 (GPR56), also known as adhesion G protein-coupled receptor G1. Bi-allelic mutations in GPR56 give rise to cobblestone-like malformation, white matter changes and cerebellar dysplasia. Read More

    Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
    Clin Biochem 2017 Feb 24. Epub 2017 Feb 24.
    Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan; Laboratory of Proteoglycan Signaling and Therapeutics, Graduate School of Life Science Hokkaido University, Sapporo 001-0021, Japan. Electronic address:
    Purpose: Dermatan sulfate (DS) plays a number of roles in a wide range of biological activities such as cell signaling and tissue morphogenesis through interactions with various extracellular matrix proteins including collagen. Mutations in the carbohydrate sulfotransferase 14 gene (CHST14) encoding CHST14/dermatan 4-O-sulfotransferase-1 (D4ST1), which is responsible for the biosynthesis of DS, cause a recently delineated form of Ehlers-Danlos syndrome (EDS, musculocontractural type 1), an autosomal recessive connective tissue disorder characterized by congenital malformations (specific craniofacial features, and congenital multiple contractures) and progressive fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; and large subcutaneous hematomas). In an attempt to develop a diagnostic screening method for this type of EDS, the amount of DS in the urine of patients was analyzed. Read More

    Neurological and spinal manifestations of the Ehlers-Danlos syndromes.
    Am J Med Genet C Semin Med Genet 2017 Mar 21;175(1):195-211. Epub 2017 Feb 21.
    The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium surrounding peripheral nerves. Entrapment, deformation, and biophysical deformative stresses exerted upon the nervous system may alter gene expression, neuronal function and phenotypic expression. Read More

    Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study.
    Minerva Pediatr 2017 Feb 17. Epub 2017 Feb 17.
    Department of Paediatrics, University of Pavia, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
    Background: The Ehlers-Danlos Syndrome (EDS) is a rare disorder affecting the connective tissue. EDS patients may suffer of proprioception and balance impairment but all the studies dealing with such symptoms have been addressed to adult subjects. The Study of such impairment in younger patients may lead to a better awareness of own motor abilities and to a focused rehabilitative intervention. Read More

    Ehlers-Danlos syndrome, classical type.
    Am J Med Genet C Semin Med Genet 2017 Mar 13;175(1):27-39. Epub 2017 Feb 13.
    Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. Read More

    Oral and mandibular manifestations in the Ehlers-Danlos syndromes.
    Am J Med Genet C Semin Med Genet 2017 Mar 13;175(1):220-225. Epub 2017 Feb 13.
    The Ehlers-Danlos syndromes (EDS) are hereditary disorders that affect the connective tissue and collagen structures in the body. Several types of EDS have been identified. Oral and mandibular structures, which include oral soft tissue, dentition, facial and head pain, and the functioning of the temporomandibular joint (TMJ), are variably affected in the various types of EDS. Read More

    Orthopaedic management of the Ehlers-Danlos syndromes.
    Am J Med Genet C Semin Med Genet 2017 Mar 13;175(1):188-194. Epub 2017 Feb 13.
    The role of orthopedic surgery in Ehlers-Danlos syndrome is inherently controversial, opaque to most patients and many medical providers, and difficult to discern from available medical literature. Non-operative treatment is preferable, but for carefully selected patients, specific joint stabilization and nerve decompression procedures can provide symptomatic relief when conservative measures fail. © 2017 Wiley Periodicals, Inc. Read More

    Mechanisms underlying reflux symptoms and dysphagia in patients with joint hypermobility syndrome, with and without postural tachycardia syndrome.
    Neurogastroenterol Motil 2017 Feb 12. Epub 2017 Feb 12.
    Wingate Institute of Neurogastroenterology, Centre for Digestive Diseases, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
    Background: The joint hypermobility syndrome (JHS) is a common non-inflammatory connective tissue disorder which frequently co-exists with postural tachycardia syndrome (PoTS), a form of orthostatic intolerance. Gastrointestinal symptoms and dysmotility have been reported in PoTS. Dysphagia and reflux are common symptoms in JHS, yet no studies have examined the physiological mechanism for these, subdivided by PoTS status. Read More

    Chronic fatigue in Ehlers-Danlos syndrome-Hypermobile type.
    Am J Med Genet C Semin Med Genet 2017 Mar 10;175(1):175-180. Epub 2017 Feb 10.
    Chronic fatigue is an important contributor to impaired health-related quality of life in Ehlers-Danlos syndrome. There is overlap in the symptoms and findings of EDS and chronic fatigue syndrome. A proportion of those with CFS likely have EDS that has not been identified. Read More

    Pain management in the Ehlers-Danlos syndromes.
    Am J Med Genet C Semin Med Genet 2017 Mar 10;175(1):212-219. Epub 2017 Feb 10.
    Chronic pain in the Ehlers-Danlos syndromes (EDS) is common and may be severe. According to one study, nearly 90% of patients report some form of chronic pain. Pain, which is often one of the first symptoms to occur, may be widespread or localized to one region such as an arm or a leg. Read More

    Psychiatric and psychological aspects in the Ehlers-Danlos syndromes.
    Am J Med Genet C Semin Med Genet 2017 Mar 10;175(1):237-245. Epub 2017 Feb 10.
    There is increasing amount of evidence pointing toward a high prevalence of psychiatric conditions among individuals with hypermobile type of Ehlers-Danlos syndrome (JHS/hEDS). A literature review confirms a strong association between anxiety disorders and JHSh/hEDS, and there is also limited but growing evidence that JHSh/hEDS is also associated with depression, eating, and neuro-developmental disorders as well as alcohol and tobacco misuse. The underlying mechanisms behind this association include genetic risks, autonomic nervous system dysfunction, increased exteroceptive and interoceptive mechanisms and decreased proprioception. Read More

    Gastrointestinal involvement in the Ehlers-Danlos syndromes.
    Am J Med Genet C Semin Med Genet 2017 Mar 10;175(1):181-187. Epub 2017 Feb 10.
    Current evidence suggests that an association exists between non-inflammatory hereditary disorders of connective tissue such as the Ehlers-Danlos syndromes (EDS) and gastrointestinal (GI) symptoms. Patients with EDS can present with both structural problems such as hiatus hernias, visceroptosis, rectoceles, and rectal prolapse as well as functional problems such as disordered gut motility. It has recently been demonstrated that patients with hypermobile EDS (hEDS) present with GI symptoms related to the fore and hind-gut and these patients frequently meet the criteria for functional gastrointestinal disorders such as functional dyspepsia and irritable bowel syndrome. Read More

    A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.
    Vasc Endovascular Surg 2017 Apr 9;51(3):141-145. Epub 2017 Feb 9.
    5 Regional Center of Ehlers-Danlos Syndrome, IRCCS Ca' Granda Foundation, Milan, Italy.
    Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain ( COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Read More

    Cognitive impairment in women with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type.
    Rheumatol Int 2017 Feb 8. Epub 2017 Feb 8.
    Service de Médecine Physique et Réadaptation, APHP, Hôpitaux Universitaires Paris Centre, Université Paris-Est Créteil, Hôtel Dieu, Paris, France.

    Chronic pain in a patient with Ehlers-Danlos syndrome (hypermobility type): The role of myofascial trigger point injections.
    J Bodyw Mov Ther 2017 Jan 5;21(1):194-196. Epub 2016 Jul 5.
    Pain Clinic, Department of Anaesthesia, Sanjay Gandhi Post Graduate Institute, Raebareli Road, Lucknow, Uttar Pradesh 226014, India.
    Chronic widespread musculoskeletal pain is a cardinal symptom in hypermobility type of Ehler Danlos Syndrome (EDS type III). The management of pain in EDS, however, has not been studied in depth. A 30 year old female, known case of EDS, presented to the pain clinic with complaints of severe upper back pain for 6 months. Read More

    Cardiovascular autonomic dysfunction in Ehlers-Danlos syndrome-Hypermobile type.
    Am J Med Genet C Semin Med Genet 2017 Mar 4;175(1):168-174. Epub 2017 Feb 4.
    Autonomic dysfunction contributes to health-related impairment of quality of life in the hypermobile type of Ehlers-Danlos syndrome (hEDS). Typical signs and symptoms include tachycardia, hypotension, gastrointestinal dysmotility, and disturbed bladder function and sweating regulation. Cardiovascular autonomic dysfunction may present as Orthostatic Intolerance, Orthostatic Hypotension, Postural Orthostatic Tachycardia Syndrome, or Neurally Mediated Hypotension. Read More

    Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.
    Am J Med Genet C Semin Med Genet 2017 Mar 1;175(1):48-69. Epub 2017 Feb 1.
    The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Read More

    A framework for the classification of joint hypermobility and related conditions.
    Am J Med Genet C Semin Med Genet 2017 Mar 1;175(1):148-157. Epub 2017 Feb 1.
    In the last decade, growing attention has been placed on joint hypermobility and related disorders. The new nosology for Ehlers-Danlos syndrome (EDS), the best-known and probably the most common of the disorders featuring joint hypermobility, identifies more than 20 different types of EDS, and highlights the need for a single set of criteria to substitute the previous ones for the overlapping EDS hypermobility type and joint hypermobility syndrome. Joint hypermobility is a feature commonly encountered in many other disorders, both genetic and acquired, and this finding is attracting the attention of an increasing number of medical and non-medical disciplines. Read More

    Understanding vascular-type Ehlers-Danlos syndrome and avoiding vascular complications.
    Proc (Bayl Univ Med Cent) 2017 Jan;30(1):52-53
    Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.
    Vascular-type Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disorder caused by a mutation in type III procollagen. It has the highest mortality rate among the six types of EDS. Patients with this syndrome often have typical medical histories and a characteristic physical examination. Read More

    Congenital Chylous Ascites and Ehlers-Danlos Syndrome Type VI.
    ACG Case Rep J 2016 Aug 21;3(4):e186. Epub 2016 Dec 21.
    Departments of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah; Department of Pediatric Gastroenterology, University of Utah School of Medicine, Salt Lake City, Utah.
    We report the first observation of a patient with contgenital chylous ascites (CCA) and Ehlers-Danlos syndrome type VI due to primary lymphatic defect with additional vascular anomaly. CCA is a rare condition, and there is limited understanding of its pathophysiology and treatment options. We also review the patient's treatment course mitigated with octreotide and total parenteral nutritional support, as there are no current established guidelines for CCA. Read More

    P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA.
    J Biol Chem 2017 Mar 23;292(9):3877-3887. Epub 2017 Jan 23.
    From the Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington 98195.
    Tandem mass spectrometry was applied to tissues from targeted mutant mouse models to explore the collagen substrate specificities of individual members of the prolyl 3-hydroxylase (P3H) gene family. Previous studies revealed that P3h1 preferentially 3-hydroxylates proline at a single site in collagen type I chains, whereas P3h2 is responsible for 3-hydroxylating multiple proline sites in collagen types I, II, IV, and V. In screening for collagen substrate sites for the remaining members of the vertebrate P3H family, P3h3 and Sc65 knock-out mice revealed a common lysine under-hydroxylation effect at helical domain cross-linking sites in skin, bone, tendon, aorta, and cornea. Read More

    Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
    Am J Med Genet A 2017 Feb 7;173(2):524-530. Epub 2016 Nov 7.
    Department of Molecular and Translational Medicine, School of Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.
    Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c. Read More

    Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
    Am J Med Genet A 2017 Feb 7;173(2):519-523. Epub 2016 Nov 7.
    Department of Cardiology, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands.
    Vascular Ehlers-Danlos Syndrome (vEDS) is caused by heterozygous mutations in COL3A1 and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy-related mortality rate of 4. Read More

    Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: a review for the gastroenterologist.
    Neurogastroenterol Motil 2017 Jan 13. Epub 2017 Jan 13.
    Wingate Institute of Neurogastroenterology, Centre for Digestive Diseases, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
    Background: Joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome hypermobility type (EDS-HT) is the most common hereditary non-inflammatory disorder of connective tissue, characterized by a wide range of symptoms, mainly joint hyperextensibility and musculoskeletal symptoms. A majority of patients also experiences gastrointestinal (GI) symptoms. Furthermore, JHS/EDS-HT has specifically been shown to be highly prevalent in patients with functional GI disorders, such as functional dyspepsia and irritable bowel syndrome. Read More

    Sudden death due to aortic pathology.
    Cardiol Young 2017 Jan;27(S1):S36-S42
    Division of Cardiology,Children's Mercy Hospital,Kansas City, Missouri,United States of America.
    Sudden death from aortic dissection of an ascending aortic aneurysm is an uncommon but important finding in all series of sudden death in young, apparently healthy athletes. Individuals at risk include those having any of a variety of conditions in which structural weakness of the ascending aorta predisposes to pathological dilation under prolonged periods of increased wall stress. These conditions include Marfan syndrome, Loeys-Dietz syndrome, bicuspid aortic valve, and the vascular form of Ehlers-Danlos syndrome. Read More

    Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers-Danlos syndrome.
    Rheumatology (Oxford) 2017 Jan 11. Epub 2017 Jan 11.
    Department of Surgery, Zealand University Hospital, Køge, Denmark.
    Objectives: The aim of this study was to investigate national prevalence, general demographic characteristics and survival of Danish patients with Ehlers-Danlos syndrome (EDS).

    Method: A population-based cohort study was conducted using a database consisting of the entire Danish population alive at any given time between 1 January 2000 and 31 December 2012, based upon longitudinal Danish national registers. All patients with EDS were identified, and the cohort was described by disease prevalence, basic demographic characteristics, mean age at death and mortality for the observational period of 13 years. Read More

    Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study.
    Thorax 2017 Jan 10. Epub 2017 Jan 10.
    Department of Pulmonology, University Hospital Zurich, Zurich, Switzerland.
    Background: Patients with the connective tissue disorder Ehlers-Danlos syndrome (EDS) often suffer from fatigue, excessive daytime sleepiness and impaired quality of life. Obstructive sleep apnoea (OSA) may be an underlying cause for these symptoms but its prevalence in this population is unclear.

    Methods: In this prospective parallel-cohort study, we included 100 adult patients with EDS (46% hypermobile-type, 35% classical-type and 19% other), which were one-to-one matched to 100 healthy adult controls according to sex, age, weight and height. Read More

    COL6A5 variants in familial neuropathic chronic itch.
    Brain 2017 Mar;140(3):555-567
    Neuroalgology Unit and Skin Biopsy, Peripheral Neuropathy and Neuropathic Pain Center, IRCCS Foundation "Carlo Besta" Neurological Institute, Milan, Italy.
    Itch is thought to represent the peculiar response to stimuli conveyed by somatosensory pathways shared with pain through the activation of specific neurons and receptors. It can occur in association with dermatological, systemic and neurological diseases, or be the side effect of certain drugs. However, some patients suffer from chronic idiopathic itch that is frequently ascribed to psychological distress and for which no biomarker is available to date. Read More

    Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases.
    Sci Rep 2017 Jan 4;7:39636. Epub 2017 Jan 4.
    Department of Medicine, Geisel School of Medicine at Dartmouth, Lebanon, 03756, NH, USA.
    We retrospectively analyzed electronic medical records of patients with Ehlers-Danlos Syndrome hypermobility type (HEDS), including demographic information, workup, rheumatological diagnoses in order to determine its association with rheumatological conditions. HEDS Patients were stratified according to level of workup received (no additional work (physical exam only) = NWU, limited workup = LWU, comprehensive workup = CWU)). HEDS patients were predominantly female (21:4, F:M). Read More

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