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Hypermobility syndrome

Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
Ehlers-Danlos syndrome classical type (cEDS) 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 cEDS. A copy number variant-calling algorithm from panel sequencing data identified the deletions exons 2-11 and duplications of exons 12-67 within COL5A1...
March 9, 2018: Congenital Anomalies
Maria Roma, Colleen L Marden, Inge De Wandele, Clair A Francomano, Peter C Rowe
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...
March 5, 2018: Autonomic Neuroscience: Basic & Clinical
Priya Vijayvargiya, Michael Camilleri, Robert R Cima
A 22-year-old woman presented with 12 years of progressive constipation; she had increased joint flexibility, hyperextensible skin, and excessive perineal descent on examination. Radiological studies confirmed evidence of rectal evacuation disorder due to descending perineum syndrome, enterocele, and rectocele. In a wide genetic screen (∼611,000 single nucleotide polymorphisms), 4 variations were identified in COL1A1 gene ([rs72656352, Chr17: 50,185,535-50,185,539, deletion], [rs72654794, Chr17: 50,188,575, deletion], [rs72667023, Chr17: 50,198,170, deletion], [rs67828806, Chr17: 50,198,177 G→C])...
March 2018: Mayo Clinic Proceedings
Francesca Cortini, Chiara Villa
The Ehlers-Danlos syndromes (EDS) comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs), characterised by joint hypermobility, hyperextensibility of the skin and tissue fragility that can induce symptoms from multiple organ systems. The latest EDS nosology distinguished thirteen subtypes with an overlap of phenotypic features, making the clinical diagnosis rather difficult and highlighting the importance of molecular diagnostic confirmation. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been focused on neurological manifestations of EDS...
February 27, 2018: Seizure: the Journal of the British Epilepsy Association
Barak C Clement, Christopher Forster, Nicholas Logemann
Focal linear elastosis (FLE) is a benign skin findingcharacterized by hypertrophic linear plaques withabnormal elastic fibers on histology. We present aunique case in which focal linear elastosis occurredin the setting of joint hypermobility syndrome(JHS). Our patient, a 20-year-old man with a medicalhistory significant for symptoms consistent with JHS,had been followed by the rheumatology clinic formany months. He was referred to the dermatologydepartment for further evaluation of asymptomaticlongitudinal bands on his back that had been presentfor many years...
January 15, 2018: Dermatology Online Journal
Silvia Morlino, Marco Castori, Chiara Dordoni, Valeria Cinquina, Graziano Santoro, Paola Grammatico, Marina Venturini, Marina Colombi, Marco Ritelli
Heterozygous variants in MAP3K7, encoding the transforming growth factor-β-activated kinase 1 (TAK1), are associated with the ultrarare cardiospondylocarpofacial syndrome (CSCFS). Specific gain-of-function variants in the same gene cause the allelic frontometaphyseal dysplasia type 2. Phenotypic series of frontometaphyseal dysplasia also comprise variants in FLNA (type 1) and two patients with a heterozygous variant in TAB2 (type 3). We report on a 7-year-old girl with CSCFS due to the novel heterozygous c...
February 21, 2018: European Journal of Human Genetics: EJHG
Carolina Baeza-Velasco, Lorenzo Sinibaldi, Marco Castori
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. To review pertinent literature to identify possible connections between ADHD and GJH, special emphasis was put on musculoskeletal pain and syndromic presentations of GJH, particularly the hypermobile Ehlers-Danlos syndrome...
February 14, 2018: Attention Deficit and Hyperactivity Disorders
Christian Dippmann, Otto Kraemer, Bent Lund, Michael Krogsgaard, Per Hölmich, Martin Lind, Karen Briggs, Marc Philippon, Bjarne Mygind-Klavsen
INTRODUCTION: Hip arthroscopy has become a standard procedure in the treatment of hip joint pain not related to osteoarthritis or dysplasia in the young and active patient. There has been increasing focus on the contribution of the hip capsule to function and on stability following hip arthroscopy. It has been suggested that capsular closure after hip arthroscopy may prevent microinstability and macroinstability of the hip joint and reduce revision rate. However, it remains unknown whether capsular closure should be performed as a standard procedure when performing hip arthroscopies, especially in patients without additional risk factors for instability such as hypermobility or dysplasia of the hip...
February 10, 2018: BMJ Open
Min A Park, So Youn Shin, Young Jin Kim, Myung Jae Park, Seung Hyeun Lee
RATIONALE: Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported...
November 2017: Medicine (Baltimore)
Stephen Kucera, Stephen N Sullivan
The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.
November 8, 2017: Curēus
Jeffrey R Boris, Thomas Bernadzikowski
OBJECTIVE: The aim of this study was to identify and evaluate demographic and clinical features of paediatric patients with postural orthostatic tachycardia syndrome in a tertiary hospital speciality clinic. METHOD: This is a retrospective review of clinical data obtained during initial outpatient evaluation. RESULTS: A total of 708 patients met the evaluation criteria. Female patients outnumbered males, 3.45:1. Caucasians were over-represented at 94...
January 23, 2018: Cardiology in the Young
Carolina Baeza-Velasco, Antonio Bulbena, Roberto Polanco-Carrasco, Roland Jaussaud
BACKGROUND: Ehlers-Danlos syndrome (EDS) hypermobility-type is the most common hereditary disorder of the connective tissue. The tissue fragility characteristic of this condition leads to multi-systemic symptoms in which pain, often severe, chronic, and disabling, is the most experienced. Clinical observations suggest that the complex patient with EDS hypermobility-type is refractory toward several biomedical and physical approaches. In this context and in accordance with the contemporary conceptualization of pain (biopsychosocial perspective), the identification of psychological aspects involved in the pain experience can be useful to improve interventions for this under-recognized pathology...
January 22, 2018: Disability and Rehabilitation
Justyna Martin
This article discusses the perioperative care needs of patients with Ehlers Danlos type IV (vascular) syndrome. Ehlers Danlos syndrome (EDS) is a heritable group of connective tissue disorders characterised by varying degrees of tissue, blood vessel and internal organ fragility as well as skin and joint hypermobility (De Paepe and Malfait 2012).
September 2017: Journal of Perioperative Practice
Nicoletta Zoppi, Nicola Chiarelli, Silvia Binetti, Marco Ritelli, Marina Colombi
Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder with unknown molecular basis mainly characterized by generalized joint hypermobility, joint instability complications and minor skin changes. The phenotypic spectrum is broad and includes multiple associated symptoms shared with chronic inflammatory systemic diseases. The stricter criteria defined in the 2017 EDS nosology leave without an identity many individuals with symptomatic joint hypermobility and/or features of hEDS; for these patients, the term Hypermobility Spectrum Disorders (HSD) was introduced...
January 5, 2018: Biochimica et Biophysica Acta
Adelina Pennetti
The purpose of this case report is to present a multimodal approach for patient management using the Maitland concept framework for cervical and lumbar radiculitis with an underlying diagnosis of Ehlers-Danlos Syndrome-Hypermobility Type (EDS-HT). This case presents care guided by evidence, patient values, and rationale for the selected course of physical therapy treatment provided by therapist experience. A 35-year-old female with a 2-year history of worsening lumbar and cervical pain was referred to physical therapy to address these musculoskeletal issues concurrent with diagnostic testing for EDS...
January 8, 2018: Physiotherapy Theory and Practice
Michelle Lee, Mattias Strand
The Ehler-Danlos syndromes (EDS) are a group of clinically heterogeneous connective tissue disorders characterized by joint hypermobility, hyperextensibility of the skin, and a general connective tissue fragility that can induce symptoms from multiple organ systems. We present a case of comorbid anorexia nervosa and EDS in a 23-year old woman with a multitude of somatic symptoms that were initially attributed to the eating disorder but that were likely caused by the underlying EDS. Various EDS symptoms, such as gastrointestinal complaints, smell and taste abnormalities, and altered somatosensory awareness may resemble or mask an underlying eating disorder, and vice versa...
March 2018: International Journal of Eating Disorders
Ashish B Shah, Breann K Tisano, Osama Elattar, Jackson Rucker Staggers, Sameer Naranje
Introduction: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, micrognathia, short stature, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet. Very few cases have been earlier reported in the literature...
September 2017: Journal of Orthopaedic Case Reports
Julian M Stewart, Jeffrey R Boris, Gisela Chelimsky, Phillip R Fischer, John E Fortunato, Blair P Grubb, Geoffrey L Heyer, Imad T Jarjour, Marvin S Medow, Mohammed T Numan, Paolo T Pianosi, Wolfgang Singer, Sally Tarbell, Thomas C Chelimsky
Orthostatic intolerance (OI), having difficulty tolerating an upright posture because of symptoms or signs that abate when returned to supine, is common in pediatrics. For example, ∼40% of people faint during their lives, half of whom faint during adolescence, and the peak age for first faint is 15 years. Because of this, we describe the most common forms of OI in pediatrics and distinguish between chronic and acute OI. These common forms of OI include initial orthostatic hypotension (which is a frequently seen benign condition in youngsters), true orthostatic hypotension (both neurogenic and nonneurogenic), vasovagal syncope, and postural tachycardia syndrome...
January 2018: Pediatrics
Lígia Bruni Queiroz, Benito Lourenço, Luiz Eduardo Vargas Silva, Daniela Mencaroni Rodrigues Lourenço, Clovis Artur Silva
OBJECTIVE: To evaluate television and simultaneous electronic devices use in adolescents with musculoskeletal pain and musculoskeletal pain syndromes. METHODS: A cross-sectional study was performed in 299 healthy adolescents of a private school. All students completed a self-administered questionnaire, including: demographic data, physical activities, musculoskeletal pain symptoms, and use of simultaneous television/electronic devices (computer, internet, electronic games, and cell phones)...
November 21, 2017: Jornal de Pediatria
P McDermott, E Wolfe, C Lowry, K Robinson, H P French
Joint Hypermobility Syndrome (JHS) in children, presents with increased joint range of motion and can lead to altered gait strategies and reduced dynamic balance. Despite limited evidence foot orthoses are sometimes prescribed to patients with JHS with the aim to improve the stability of their gait pattern and theoretically reduce associated symptoms of fatigue and joint pain. The purpose of this study was therefore to analyse the immediate effects of 'off the shelf' orthoses on temporospatial parameters of gait and dynamic balance in this cohort...
February 2018: Gait & Posture
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