Articular Hypermobility Research Articles

Digital Measurement of the Diameter of the Collagen Fibers by Transmission Electron Microscopy for Diagnosis of Ehlers-Danlos Syndrome-Like in Small Animals

Background: Ehlers-Danlos-Like Syndrome (EDS) is a rare disease in small animals, whose diagnosis is based on the clinical findings and histopathological examination. The definitive diagnosis may require transmission electron microscopy. Despite this, the ultrastructural changes are poorly described in the literature. The aim of the present study is to describe the ultrastructural findings of collagen fibers and fibroblasts present in the dermis of two animals with EDS, and to evaluate the digital measurement of the diameter of the collagen fibers by transmission electron microscopic images.Cases: Two animals were evaluated with EDS by transmission electron microscopy. The first animal was an 1-year-old mixed breed female cat, due to spontaneous skin laceration, increased skin elasticity and an extensibility index corresponding to 25%. The second animal evaluated was a 5-month-old Golden Retriever female dog due to articular hypermobility, increased skin elasticity and an extensibility index corresponding to 16.6%. After a skin biopsy of the interscapular and lumbar regions, the samples were fixed in formalin 10% and glutaraldehyde for, respectively, histopathological examination by HE staining, and transmission electron microscopy. The histopathology of the affected cat revealed collagen fibers shortened and sometimes fragmented. The histopathology of the affected dog revealed disarranged and more eosinophilic staining collagen fibers. The collagen fibers were also of unequal sizes, shortened and slightly undulate. At the transmission electron microscopy of the affected cat was evidenced a greater spacing of the collagen fibers of variable diameters. Further this, the fibroblasts showed elongated nuclei with heterochromatic regions, which was surrounded externally by scant cytoplasm. The cytoplasm showed elongated and discrete organelles. At the transmission electron microscopy of the affected dog was evidenced a greater spacing of the collagen fibers of variable diameters. Further this, fibroblasts exhibited intense cytoplasmic vacuolization with similar appearance to that found in the dying process by autophagy. In addition, the images obtained by transmission electron microscopy were submitted to digital analysis to measure the diameter of the collagen fibers using the software Image J. For this purpose, it was obtained the average of the diameter of 10 collagen fibers in cross-section into four quadrants of 1μm each. The digital analysis of collagen fibers revealed significant alterations in the ultrastructure of collagen. In addition, it was verified cellular changes, such as the large amount of intracytoplasmic vesicles and the small amount of collagen fibers dispersed around the cells.Discussion: Microscopic abnormalities visualized by HE staining in this present study were compatible with the literature Transmission electron microscopy is fundamental to confirm the suspicion, since it revealed dermal alterations in the ultrastructure of collagen and fibroblasts. These findings indicate possible failure mechanisms of secretion and release of cellular products, as well as collagen. The digital measurement of the diameter of the collagen fibers contributed to the confirmation of the disease, since it was made randomly and reduced the subjectivity inherent of the evaluator. However, there are no studies using this method to allocate a range of significance for the diameter of collagen fibers that may be considered suggestive for the syndrome in small animals.

HYPERMOBILITY OF THE ARTICULAR HEADS OF THE TEMPOROMANDIBULAR JOINT: PATHOLOGY OR VARIANT OF THE NORM?

Among the large contingent of patients with TMJ dysfunctions, there are persons with hypermobility of the joint heads of the lower jaw. Moreover, at present, the question of the frequency of occurrence of hypermobility of articular heads of the TMJ is not reflected. The aim of the work is to find out the frequency of occurrence of hypermobility of articular head among a healthy population and to evaluate the clinical, radiological, and electromyographic characteristics of the muscular-articular complex in these individuals. Surveys were conducted for 476 students aged 19 to 25 years. For people with revealed articular hypermobility of the articular heads, chewing and temporal muscle electromyography, TMJ aiming zonography in a lateral projection with open and closed mouth were performed with an assessment of the correspondence of the articular fossa of the temporal bone to the size of the articular head, the location of the articular heads relative to the apex of the articular tubercle. Of the examined 476 students, 95 people (20%) revealed hypermobility of the articular heads of TMJ. According to the results of clinical, functional and radiological studies of TMJ, we identified three degrees of hypermobility: light, moderately expressed, significant. With light to moderate degree of hypermobility, electromyography of the temporal and chewing muscles and TMJ zonography did not reveal a difference in performance compared to healthy ones. Most of the examined did not note functional discomfort from the joints. With a significant degree of hypermobility of the articular heads, electromyography of the temporal and chewing muscles revealed a lack of synergism in their work. On TMJ zonograms with an open mouth, the articular heads extended anteriorly beyond the tops of the articular tubercles almost under their outer base. It has been established that hypermobility of the joint heads of the TMJ, which does not cause signs of pathology in the form of masticatory function disorders, discoordination of the masticatory muscles and uncontrolled displacements of the lower jaw, the presence of a pain symptom should be considered as a variant of norm.

A group of patients with Marfan's syndrome, who have finger and toe contractures, displays tendons' alterations upon an ultrasound examination: are these features common among classical Marfan patients?

The involvement of the musculoskeletal system with other mild pleiotropic manifestations represents a clinical criterion, called "systemic features," to d iagnose Marfan's syndrome. We aimed to investigate the features of the hands and feet redressable contractures present in a group of Marfan patients. In 13 patients with previously diagnosed Marfan's syndrome, an accurate clinical examination was performed. In particular the characterization of the musculoskeletal system by visual analogic scale to measure muscle pain (VAS) and muscle strength (MRC system) was carried out; the Beighton scale score was used to evaluate the articular hypermobility. Ultrasound examination (US) was performed to detect deep-superficial flexor tendons and extensor tendons of both hands, and the short and long flexor and extensor tendons of the fingers and toes in static and dynamic positions. The ImageJ program was adopted to measure a profile of tendon echo-intensity. A reduction of the thickness of all tendons was detected by US in our patients; the VAS and Beighton scale scores were in normal ranges. The profile of tendon echo-intensity showed different textural details in all Marfan patients. This study provides evidence for other contractures' localization, and for altered findings of the tendons in patients with Marfan syndrome and finger/toe contractures. These changes may be associated with structural modifications in connective tissue.

Demystifying the Positive Antinuclear Antibody Test in Children: A Clinical Review

A 15-year-old girl presented with knee pain, associated with a positive antinuclear antibody (ANA). She denied joint swelling or morning stiffness and remained physically active despite the pain. A physical examination was unremarkable except for articular hypermobility. Laboratory results were also unremarkable. Therefore, the positive ANA was determined to be nonspecific, and not concerning. In the evaluation of children with musculoskeletal complaints, unusual rash, or fatigue, an ANA assessment is frequently considered. When is this test most likely to be useful? What is the appropriate follow up for a positive result? Which results are concerning for an autoimmune process? This article reviews the literature to address these practical concerns. Understanding the indications for ordering an ANA, and the correct interpretation of a positive ANA, may reduce unnecessary referrals and costly tests. Moreover, the misperception that a positive ANA indicates a rheumatologic disease can cause significant patient and parental anxiety.

AB0958 Tendon's Involvement in Marfan Syndrome: Ultrasound Evaluation

BackgroundHypermobility, dislocations and contractures of joints represent overlapping clinical manifestations between rheumatological diseases, neuromuscular disorders and inherited connective tissue disorders such as Marfan Syndrome. Some Authors (1) focused on the...

Functional adaptation of tendon and skeletal muscle to resistence training in three patients with genetically verified clasic Ehlers Danlos Syndrome

tendon and skeletal muscle function adapts to physical training of resistive nature, but it is unknown to what extent persons with genetically altered connective tissue - who have a higher than normal tendon extensibility - will obtain any effect upon their tendon and muscle when undergoing muscle strength training. We investigated patients with classical Ehlers Danlos Syndrome (EDS) (collagen type V defect) who display articular hypermobility, skin extensibility and tissue fragility. subjects underwent strength training 3 times a week for 4 months and were tested before and after intervention in regards to muscle strength, tendon mechanical properties, and muscle function. three subjects completed the scheduled 48 sessions and had no major adverse events. Mean isometric leg extension force and leg extensor power both increased by 8 and 11% respectively (358 to 397 N, and 117 to 123 W). The tendon stiffness was tested and an average increase in response to physical training, from 1795 to 2519 N/mm was found. On average, the training loads both in upper and lower body exercises increased by around 30% over the training period. When testing balance, the average sway-area of the participants decreased by 26% (0.144 to 0.108 m(2)). On the subscale of CIS20 the participants lowered their average subjective fatigue score from 33 to 25. in this small pilot study, heavy resistance training was both feasible and effective in classic Ehlers Danlos patients, and the results indicated that both tendon and skeletal muscle properties can be improved also in this patient group when they are subjected to resistance training.

Опыт применения экстракорпоральной ударно-волновой терапии в лечении энтезопатий конечностей у пациентов с синдромом гипермобильности суставов

Опыт применения экстракорпоральной ударно-волновой терапии в лечении энтезопатий конечностей у пациентов с синдромом гипермобильности суставов

Biomecânica da articulação temporomandibular numa população de cantores

IntroductionThe practice of an art performance activity like singing requires technical, physical and physiological skills that determine the singers and his musical performance productivity. Singing may develop some pathologies, namely at the temporomandibular joint (TMJ), in the professionals who dedicate themselves to this art. ObjectiveDetermine if singing leads to changes in the TMJs biomechanics, like temporomandibular disorders and/or condilar hypermobility. MethodsThe population of this study was made by 36 individuals, 18 professional singers (study group) and 18 from de control group. The TMD diagnostic was made through the Research Diagnostic Criteria for Temporomandibular Disorders. The condilar hypermobility diagnostic was made through a clinical exam, an electrosonography and a radiographic study of the TMJ. Statistical analysis was performed using techniques that were considered most appropriate for the variables involved, including the chi-square, McNemar and correlation. ResultsIn the study group, 27.8% of the individuals presented some kind of TMD, while in the control group that percentage was 16.7%. The articular hypermobility had a 50% frequency on the control group and 77.8% on the study group. No statistically significant differences were found (P > .05). ConclusionIt can be concluded in this study that singing, on a professional level, does not constitute a risk factor for the development of TMDs and/or articular hypermobility.

CIRNE III Abstracts: Congresso Internacional de Reabilitação Neuromusculoesquelética e Esportiva, May 18–21, 2011, Vitória, Brazil

CIRNE III Abstracts: Congresso Internacional de Reabilitação Neuromusculoesquelética e Esportiva, May 18–21, 2011, Vitória, Brazil

Posterior Spinal Fusion for Scoliosis in Ehlers-Danlos Syndrome, Kyphoscoliosis Type

The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility, and tissue fragility. Surgical treatment of scoliosis associated with Ehlers-Danlos syndrome poses a challenge to spine surgeons because of the high risk of major complications. There is a paucity of evidence in the literature on surgical treatment for scoliosis in the Ehlers-Danlos syndrome patient.This article describes 3 adolescent patients diagnosed with Ehlers-Danlos syndrome, kyphoscoliosis type, which was treated by posterior spinal fusion only. After unsuccessful conservative treatment for at least 1 year, the patients underwent posterior spinal surgery for the correction of spinal deformity. A satisfactory correction in the spinal curve was achieved, with no obvious loss of correction during follow-up. No intra- or postoperative major complications were observed.Our experience supports that a satisfactory correction of scoliosis can be achieved by posterior spinal fusion only in patients with Ehlers-Danlos syndrome, kyphoscoliosis type.

The differential diagnosis of children with joint hypermobility: a review of the literature

BackgroundIn this study we aimed to identify and review publications relating to the diagnosis of joint hypermobility and instability and develop an evidence based approach to the diagnosis of children presenting with joint hypermobility and related symptoms.MethodsWe searched Medline for papers with an emphasis on the diagnosis of joint hypermobility, including Heritable Disorders of Connective Tissue (HDCT).Results3330 papers were identified: 1534 pertained to instability of a particular joint; 1666 related to the diagnosis of Ehlers Danlos syndromes and 330 related to joint hypermobility.There are inconsistencies in the literature on joint hypermobility and how it relates to and overlaps with milder forms of HDCT. There is no reliable method of differentiating between Joint Hypermobility Syndrome, familial articular hypermobility and Ehlers-Danlos syndrome (hypermobile type), suggesting these three disorders may be different manifestations of the same spectrum of disorders. We describe our approach to children presenting with joint hypermobility and the published evidence and expert opinion on which this is based.ConclusionThere is value in identifying both the underlying genetic cause of joint hypermobility in an individual child and those hypermobile children who have symptoms such as pain and fatigue and might benefit from multidisciplinary rehabilitation management.Every effort should be made to diagnose the underlying disorder responsible for joint hypermobility which may only become apparent over time. We recommend that the term "Joint Hypermobility Syndrome" is used for children with symptomatic joint hypermobility resulting from any underlying HDCT and that these children are best described using both the term Joint Hypermobility Syndrome and their HDCT diagnosis.

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review

We have documented the clinical and radiological features of a girl with a severe form of spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type, which is associated with marked articular hypermobility. This condition is to be differentiated clinically from generalized hypermobility syndromes specifically Ehlers-Danlos syndrome and Larsen syndrome. The radiographic differential diagnosis is with the group of spondyloepimetaphyseal dysplasias specifically spondyloepimetaphyseal dysplasia with joint laxity and sponastrime dysplasia.

Inverse association of general joint hypermobility with hand and knee osteoarthritis and serum cartilage oligomeric matrix protein levels

Extensive joint hypermobility, lower serum cartilage oligomeric matrix protein (COMP) levels, and early-onset osteoarthritis (OA) are phenotypes of inherited pseudoachondroplasia and multiple epiphyseal dysplasia. However, few studies have evaluated the association between articular hypermobility and primary OA. We undertook the present study to evaluate this association and to test the hypothesis that COMP levels are associated with hypermobility in patients with OA and individuals without OA. Two separate cohorts were available for analysis, the CARRIAGE (CARolinas Region Interaction of Aging Genes and Environment) extended family and a subset of the GOGO (Genetics of Generalized Osteoarthritis) sibpair cohort. In the CARRIAGE family, we performed hand and knee examinations and hypermobility evaluations (Beighton criteria) and obtained sera for measurement of COMP and hyaluronan (HA). Data on COMP and HA levels and extensive joint radiographic and hypermobility data were also available for the GOGO cohort. The prevalence of hypermobility was 13% in the CARRIAGE family and 5% in the GOGO cohort. In the CARRIAGE family, hypermobility was associated with a significantly reduced prevalence of hand (especially proximal interphalangeal joint) and knee OA and lower mean serum COMP levels, both in the total cohort and in non-hand-OA subgroups. These results were further validated in the GOGO subsets without radiographic OA, in which hypermobility was also associated with a significantly reduced mean serum COMP level (P < 0.0001 adjusted for age). Serum HA levels did not differ in relation to hypermobility in either cohort. The present results indicate that there is an inverse relationship between hypermobility and hand and knee OA, and that hypermobility is associated with lower serum COMP levels. Genetic variations of the COMP gene may account for some subgroups of benign joint hypermobility.

Das familiäre systematisierte Hypermobilitätssyndrom bei generalisierter Bindegewebsschwäche

Die konstitutionelle artikuläre Hypermobilität bzw. Bandlaxität mit den Begleit- und den pathologischen Folgezuständen des Hypermobilitätssyndroms sind in der deutschsprachigen Rheumatologie und Orthopädie kaum beachtet, obwohl mit einer altersabhängigen und überwiegend weiblichen Prävalenz um mehr als 3 % gerechnet werden muss. Der Diagnose einer systematisierten artikulären Hypermobilität liegt die Positivität des (allerdings recht sensiblen) Beighton-Scores zugrunde, dem wir das „Paganini-Syndrom” hinzufügen. Der Befund verpflichtet zur klinischen Beachtung der potenziell drohenden pathologischen Phänomene und der Stigmata des bindegewebig generalisierten, meistens familiären Hypermobilitätssyndroms. Zu diesem und zum Umfeld seines großen, multidisziplinär und differenzialdiagnostisch relevanten Symptomenpanoramas gehören episodische synovitische Reizzustände der instabilen Gelenke, deren vorzeitige (prämature) arthrotische Degeneration, die Fibromyalgie, angeborene bzw. habituelle Luxationen und die adoleszente Chondropathia patellae. Unser geringes Wissen über die sogenannten idiopathischen (primären) Arthrosen, wie die Polyarthrose, erfährt durch die Hypermobilität einen neuen, aber wesentlichen ätiologischen Faktor. Es kommen hinzu extraartikulär die Folgen auch viszeraler und vaskulärer „Bindegewebsschwäche”, faziale Stigmata sowie Probleme der gestörten Sensomotorik, psychopathologischer Zustände und Entwicklungsstörungen. Atypische Texturbefunde der Haut bestätigen die mit dem hypermobilen Typ des Ehlers-Danlos-Syndroms (EDS III) überlappende Nosologie; Kollagenmusteranomalien des Gelenkknorpels und Meniskus entsprechen der Hypothese, dass diese pathologische Kollagentextur der Instabilität der Stützgewebe und der Anfälligkeit der Gelenkstrukturen - wahrscheinlich auf dominant vererbter molekular-genetischer Grundlage einer gestörten Biosynthese der Kollagentypen - dem Hypermobilitätssyndrom zugrunde liegt.

Die Instabilität der Hand- und Fingergelenke bei der konstitutionellen Hypermobilität: Ein „Paganini-Syndrom”

In the historical and clinical context of the constitutional (familial) hypermobility syndrome, we add a description of wrist and finger joint flexibility and instability to the existing Beighton score of the hands. Calling it “Paganini syndrome” reflects the functional ambivalence of systemic articular hypermobility in the context of collagenopathies (HDCT). The analysis of the skills of a violin virtuoso is the basis of a reconstruction of these symptoms by comparing historical records with the symptoms of our own patients. The rheumatological differential diagnosis is remarkable.

Connective tissue and vascular phenotype in patients with cervical artery dissection

Clinical observations and electron microscopic investigation of skin biopsies demonstrated connective tissue abnormalities in a sizeable proportion of patients with spontaneous cervical artery dissection (sCAD), suggesting an unknown connective tissue disorder as a risk factor for sCAD. To evaluate in a case-control setting if patients with sCAD exhibit clinical signs indicative of a connective tissue disorder or show a vascular phenotype. We investigated 43 consecutive patients with sCAD and 43 consecutive patients of similar age with ischemic stroke of other etiology. All patients underwent standardized MRI of the head and neck. The clinical investigation contained 25 items characteristic for connective tissue diseases such as hyperextensible skin, articular hypermobility, capillary fragility, and facial stigmata. A sum score counting all positive items was calculated. Additionally, the diameter of the common carotid artery (CCA) and vertebral artery (VA) and heart valve pathologies were assessed. Connective tissue sum scores did not differ between the sCAD group (mean 2.37 +/- 2.1, median 2) and the control group (mean 1.95 +/- 1.9, median 2, p = 0.34). One sCAD patient had osteogenesis imperfecta (2.3%) and exhibited the highest sum score of 8. The diameter of the CCA and VA and the prevalence of heart valve pathologies did not show any significant differences between groups. The connective tissue and vascular phenotype did not differ significantly between patients with spontaneous cervical artery dissection (sCAD) and control subjects with ischemic stroke of other etiology. These findings argue against a clinically apparent connective tissue disorder underlying sCAD. The prevalence of known connective tissue diseases in sCAD patients is low.

Ehlers-Danlos Syndrome in Athletes

Ehlers-Danlos syndrome (EDS) should be considered in the evaluation of the hypermobile athlete. EDS is a group of inheritable connective tissue disorders affecting collagen and is characterized by articular hypermobility, skin extensibility, and tissue fragility. The most common findings in the active athlete are joint pain or instability, tissue fragility, or joint dislocations. Other common findings include "cigarette paper" scarring over bony prominences, pes planus, mitral valve prolapse, hyperelastic thin skin, and internal organ involvement. The vascular type has an increased risk of sudden death secondary to catastrophic events such as aortic or visceral rupture. Although there are some genetic laboratory tests currently available, a careful history and physical examination are most helpful in diagnosing athletes with this disorder. Previous classification systems were confusing, but the 1997 revised nosology simplified the classification of EDS into six types (three major, three minor). Preparticipation cardiothoracic and orthopedic screening is highly recommended for athletes with EDS, and appropriate cardiovascular, orthopedic, gastrointestinal, neurologic, and dermatologic management can often allow patients with EDS to remain active.

P.P.7 10 Quantitative muscle function in Ehlers-Danlos syndrome

The Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility and skin extensibility. A number of genes encoding extracellular matrix molecules such as collagen I, V and tenascin-X (TNX) are involved. TNX is widely expressed in tendon sheath and muscle. Skeletal muscle features belong to the diagnostic criteria of EDS and have traditionally been explained to result from joint hypermobility and exercise avoidance.

Prise en en charge rééducative de la maladie d'Elhers-Danlos : à propos de deux cas

Purpose. – Ehlers-Danlos syndrome is rare and little known. It comprises a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility and tissue fragility. Diagnosis may be difficult and often delayed. Case report. – Here we describe 2 cases of women with Ehlers-Danlos syndrome. The first had scoliosis with back pain and joint hypermobility. The second presented with hypermobility and joint dislocation, which increased during pregnancy. In these 2 cases, rehabilitation management produced clinical improvement. Discussion. – Orthopaedic complications such joint pain, joint swelling, joint dislocation, back pain, with walking and hand function disability are the main problems in Ehlers-Danos syndrome. Surgery may be necessary to correct dislocated joints but is often not sufficient to resolve the handicap, and physical therapy has an important place in management. Conclusion. – Ehlers-Danlos syndrome is an evolving disease that can lead to great impairment. Thus, physicians must be aware of this syndrome to offer the best management, with the appropriate use of orthotic devices, specific strengthening routines, education in proper body mechanics and assistive devices, to prevent joint dislocation and subluxations responsible for pain and handicap.

Colite diverticulaire droite révélatrice d’un syndrome d’Ehlers-Danlos

Colic diverticulosis rarely occurs in the young and, in such cases, therefore requires search for a predisposing affection. A 25 year-old woman was hospitalised for abdominal pain and fever predominating in the right iliac fossa and leading to the diagnosis of right diverticular colitis. The clinical examination revealed features suggestive of an Ehlers-Danlos syndrome. The Ehlers-Danlos syndrome combines cutaneous sensitivity and articular hypermobility related to abnormality in the supporting connective tissue. Colic diverticulosis is found among the complications. Diverticular colitis occurring in a young adult should lead to the search for an originating disease of the connective tissue.