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Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders. Patients with EDS exhibit distinct pathologies of the teeth and the oral cavity. Here, we summarize the current knowledge in the various EDS types, in particular regarding severe changes in oral health-related quality of life, the differential emergence of periodontitis, characteristic yet highly cumbersome dental manifestations, apparent anomalies of oral soft tissues, and relevant issues related to dental implantology. Resolution of remaining open questions will primarily rely on the standardization of diagnostic criteria. Clinical centers that specialize on this rare pathology need to apply congruent approaches for exact characterization of clinical features in conjunction with genetic validation that should be reached without exception in all patients and relevant family members.

Ehlers-Danlos-Syndromes (EDS) is a group of hereditary, chronic and potentially disabling conditions. Few studies have tested the effects of psychological interventions to increase well-being in this population. We hypothesized that Positive Psychology Interventions (PPI), first applied to healthy and mentally ill subjects, can also be useful for people with somatic conditions and conducted a study to evaluate the efficacy of a 5-week online PPI designed to improve well-being in EDS patients. A sample of 132 EDS patients were allocated to three groups: assigned PPI, self-selected PPI, and waitlist control-group (WLC). Measures of positive and negative affect, pain disability, fatigue, and life satisfaction were administered before program start, 6 weeks later, and 1 month later. Satisfaction with the program was also evaluated. The results revealed that participants in the self-selected PPI-group, but not in the assigned PPI group, reported significantly lower levels of fatigue and higher levels of positive affect and life satisfaction compared to WLC after 6 weeks. There were no effects on negative affect and pain disability measures. Finally, 77% of the participants were satisfied or very satisfied with the program. These findings confirm and extend previous research by showing the efficacy of PPI for people with chronic illness under the condition that individuals can choose the program content. From a healthcare perspective, online PPIs could complement treatments aimed at symptom reduction and increase well-being in patients with EDS.

Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders that may present with a wide range of multisystemic symptoms. Hypermobile EDS, one of 13 identified subtypes of EDS, is the only variant without a known associated genetic mutation. A review of the literature suggests the five primary dermatological changes associated with hypermobile EDS are soft skin, atrophic cutaneous scars, piezogenic papules, hyperextensive stretchability, and hematomas. Our paper will address these cutaneous manifestations and delve into how they affect patients (primarily women). Possible consequences and treatment options for these different dermatological changes, as well as other skin manifestations such as livedo reticularis and elastosis perforans serpiginosa, will also be further explored.

Marfan syndrome (MFS) is a heritable connective tissue disorder (HCTD) caused by pathogenic variants in FBN1 that frequently occur de novo. Although individuals with somatogonadal mosaicisms have been reported with respect to MFS and other HCTD, the overall frequency of parental mosaicism in this pathology is unknown. In an attempt to estimate this frequency, we reviewed all the 333 patients with a disease-causing variant in FBN1. We then used direct sequencing, combined with High Resolution Melting Analysis, to detect mosaicism in their parents, complemented by NGS when a mosaicism was objectivized. We found that (1) the number of apparently de novo events is much higher than the classically admitted number (around 50% of patients and not 25% as expected for FBN1) and (2) around 5% of the FBN1 disease-causing variants were not actually de novo as anticipated, but inherited in a context of somatogonadal mosaicisms revealed in parents from three families. High Resolution Melting Analysis and NGS were more efficient at detecting and evaluating the level of mosaicism compared to direct Sanger sequencing. We also investigated individuals with a causal variant in another gene identified through our “aortic diseases genes” NGS panel and report, for the first time, on an individual with a somatogonadal mosaicism in COL5A1. Our study shows that parental mosaicism is not that rare in Marfan syndrome and should be investigated with appropriate methods given its implications in patient’s management.

The purpose of this series is to highlight a range of rare health conditions. Rare health conditions are those that affect no more and usually less than 1 person in every 2000 and many healthcare assistants and nurses will encounter some of these conditions, given the high number of them. This 41st article will explore three of these conditions: childhood interstitial lung disease or ChILD, neuroblastoma and Ehlers-Danlos syndromes.

True aneurysms of the anterior tibial artery are rare with less than 20 published reports in the literature. We report an urgent endovascular repair of a true anterior tibial artery aneurysm in a patient with Ehlers-Danlos type IV, vascular type. This approach resulted in an uneventful recovery without the elevated risks associated with open vascular repair in the setting of connective tissue disorder. Continuous follow-up in the subsequent 4 years has demonstrated durability and efficacy of the original intervention.

Ehlers-Danlos syndrome (EDS) appears today to be very common but is still, paradoxically, considered as rare because of a very scarce and belated diagnosis. Respiratory manifestations (exertional dyspnea, painful inspiratory bradypnea and sleep apnea are among the poorly understood manifestations of this diffuse inherited collagen disease. They can cause diagnostic errors, especially with asthma, which can lead to worsening, in these patients with very fragile tissues (including bones), contraindicating corticosteroid therapy. EDS should be systematically discussed in case of respiratory disorders in children but also in adults. There are very beneficial effects observed with oxygen therapy which considerably helps with symptoms such as fatigue, migraine, cognition, by correcting cerebral anoxia which accompanies it. Pneumologists should be made aware of the benefits of oxygen therapy when faced with an EDS patient as they may have to prescribe it.

The aim of this case report is to present the treatment plan, progress, and retention difficulty of an adolescent with a skeletal Class II malocclusion and ectopic canine eruption using a Pendulum appliance and skeletal anchorage. The patient was diagnosed with benign hypermobile EDS towards the end of treatment. This patient went through frequent relapses in a short period, which should be considered while treating patients with similar condition. This report emphasizes that forces applied in patients with Ehlers Danlos Syndrome will accelerate tooth movement but the clinicians should be cautious enough to avoid potential periodontal breakdown due to disturbaces in collagen remodeling.

An Osteopathic Family Physician will encounter hypermobile patients. Hypermobility is a symptom of many of the subtypes of the Ehlers Danlos Syndromes (EDS). With the updated classification system (the 2017 International Classification of the Ehlers-Danlos Syndromes) it is important for the osteopathic family physician to become familiar with the EDS patient. The classification system identifies 13 subtypes of EDS.1 Of these 13, 12 have a recognized genetic basis. Hypermobile EDS (hEDS) has a clinical diagnosis criteria checklist (Figure 1, page 29). There is opportunity for the osteopathic family physician community to help diagnose and treat the EDS population. This article seeks to have the osteopathic family physician become familiar with the Ehlers-Danlos Syndrome, and provide an overview of all of the subtypes of EDS, including hEDS and discusses signs, symptoms, and risks associated with the syndrome.

A unique case of a patient with Ehlers-Danlos type IV syndrome was referred with aortic root aneurysm and previous cosmetic primary repair of pectus excavatum (PE) through a solid silicone onlay prosthesis. The patient underwent successful removal of the silicone prosthesis and one-stage ascending aortic root replacement with concomitant Nuss procedure for repair of the PE.

Clinical genetic testing enables the detection of specific gene mutations and variants that predispose individuals and their family members to disease. In recent years, tremendous strides have been made in the variety of clinically useful tests. Targeted testing for specific mutations that cause well-known syndromes enables the efficient diagnosis of genetic diseases with cutaneous manifestations. Testing for specific genes, however, may not always reveal a diagnosis. Expanded options are available. This review outlines the major types of available technology with a focus on those tests most useful for pediatric dermatologists.

The Ehlers-Danlos Society Extension for Community Health Care Outcomes (EDS ECHO) is a portfolio of teleconferencing programs developed around the principles and practices of Project ECHO®, aimed at increasing awareness of Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD) among clinicians, enhancing their confidence in the assessment and management of these complex conditions, and generating networks of clinicians across specialties. We assessed the outcomes of the first EDS ECHO program, launched in April 2019, with two hub locations: Indiana University Health, Indianapolis, Indiana, USA, and The Royal Society of Medicine, London, UK. Clinicians were surveyed before and 6 months after their participation. We describe the initial outcomes of the first four EDS ECHO programs, each comprising nine sessions. Participants reported increased levels of knowledge and confidence in providing care (93% and 95%, respectively) and an increase in referral network participation (65%). Additionally, 80% reported that their interest in EDS and HSD increased; 57% reporting a great increase. Also, 59% reported a decrease in feeling overwhelmed by EDS and HSD, and nearly half reported a decrease in their level of frustration because of participating in EDS ECHO. Clinicians participating in EDS ECHO programs know more, have more confidence in their ability to provide care, and feel energized by their participation.

Vascular Ehlers Danlos (vEDS) syndrome is a severe multi-systemic connective tissue disorder characterized by risk of dissection and rupture of the arteries, gastro-intestinal tract and gravid uterus. vEDS is caused by mutations in COL3A1, that encodes the alpha 1 chain of type III collagen, which is a major extracellular matrix component of the vasculature and hollow organs. The first causal mutations were identified in the 1980s but progress in our understanding of the pathomolecular mechanisms has been limited. Recently, the application of more refined animal models combined with global omics approaches has yielded important new insights both in terms of disease mechanisms and potential for therapeutic intervention. However, it is also becoming apparent that vEDS is a complex disorder in terms of its molecular disease mechanisms with a poorly understood allelic and mechanistic heterogeneity. In this brief review we will focus our attention on the disease mechanisms of COL3A1 mutations and vEDS, and recent progress in therapeutic approaches using animal models.

International audience; The field of the psychiatric and psychological aspects of Ehlers-Danlos syndromes (EDS) has been understudied and neglected for many years. People with EDS are often classified as "somatizers" by untrained clinicians. However, research on the biological basis of EDS is improving our understanding of the physiology and psychopathology of the disorder. In this article, we consider the literature on the psychopathological dimensions associated with EDS as well as the EDS symptoms in psychiatric conditions since our review in 2017. Literature confirms that psychological processes (i.e., fear, emotional distress, or negative emotions) in EDS have a significant impact on the outcomes of EDS. Common systemic associations are found between anxiety disorders and EDS as well as significant correlations with neurodevelopmental, eating, mood, and sleep disorders. There is limited but increasing evidence of an association between EDS and suicidal thoughts and behaviors, which should be further explored. The broad spectrum of human anxiety and associated somatic symptoms (beyond anxiety disorders) appears to be the core of the psychopathology in EDS and therefore, detecting and assessing EDS might be a new opportunity for psychiatric nosology to develop more inclusive phenotypes like the Neuroconnective Phenotype that include both somatic and psychological manifestations.

The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of connective tissue disorders with varying physical manifestations. There are no clear guidelines for addressing orthopedic concerns or reporting surgical outcomes in this population. This article reviews the literature, reports on a new study, and offers considerations prior to surgical intervention. The new study seeks to determine the effectiveness of surgical intervention in individuals with EDS. It is a retrospective chart review of 154 individuals clinically diagnosed with EDS who had orthopedic surgery >2 years ago at Hospital for Special Surgery. A total of 120 individuals were included in the study. One hundred eleven females and 9 males underwent a total of 320 orthopedic surgeries, of which 204 surgeries had available post-operative follow-up. The average age at surgery was 38.2 years (range: 7.6-83.3). Multiple post-operative complications (290) were reported in 91% of cases. Common complications were persistent pain/discomfort (45), continued subluxation/dislocation (20), instability (19), pain/discomfort from hardware (17), and infection (16). Our results suggest that surgical outcomes are worse for individuals with EDS compared to the general population, a finding which is similar to other studies. Complications occurred more frequently in the EDS population than the average population, suggesting that surgery should be undertaken by a multidisciplinary team of clinicians with careful pre-operative planning and full knowledge of the risks and benefits. Guidelines for the care of this unique population must be established.

Chronic pain is one of the most common, yet poorly studied, complaints in people suffering from Ehlers-Danlos syndromes (EDS). This heterogeneous group of heritable connective tissue disorders is typically characterized by skin hyperextensibility, joint hypermobility, and generalized connective tissue fragility. Most EDS types are caused by genetic defects that affect connective tissue biosynthesis, thereby compromising collagen biosynthesis or fibrillogenesis and resulting in a disorganized extracellular matrix. Even though chronic pain is a major source of disability, functional impairment, and psychosocial suffering in EDS, currently used analgesics and other treatment strategies provide inadequate pain relief and thus represents an important unmet medical need. An important contributor to this is the lack of knowledge about the underlying mechanisms. In this narrative review, we summarize the current understanding of pain and the associated mechanisms in EDS based on clinical studies focusing on questionnaires and experimental pain testing as well as studies in animal models of EDS. In addition, we highlight the challenges, gaps, and opportunities in EDS-pain research.

Periodontal Ehlers-Danlos syndrome type VIII (pEDS) is rare and caused by mutation in complement 1 subunit. Lack of attached gingiva, pretibial plaques, joint mobility, skin fragility, and easy bruising consolidate the diagnosis. We describe a case of de novo-mutation of pEDS with generalized periapical cemento dysplasia (PCD) and leukoencephalopathy.

The Ehlers–Danlos syndromes (EDS) are a group of heritable connective tissues disorders mainly characterized by skin hyperextensibility, joint hypermobility and generalized tissue fragility. Currently, 14 EDS subtypes each with particular phenotypic features are recognized and are caused by genetic defects in 20 different genes. All of these genes are involved in the biosynthesis and/or fibrillogenesis of collagens at some level. Although great progress has been made in elucidating the molecular basis of different EDS subtypes, the pathogenic mechanisms underlying the observed phenotypes remain poorly understood, and consequentially, adequate treatment and management options for these conditions remain scarce. To date, several animal models, mainly mice and zebrafish, have been described with defects in 14 of the 20 hitherto known EDS-associated genes. These models have been instrumental in discerning the functions and roles of the corresponding proteins during development, maturation and repair and in portraying their roles during collagen biosynthesis and/or fibrillogenesis, for some even before their contribution to an EDS phenotype was elucidated. Additionally, extensive phenotypical characterization of these models has shown that they largely phenocopy their human counterparts, with recapitulation of several clinical hallmarks of the corresponding EDS subtype, including dermatological, cardiovascular, musculoskeletal and ocular features, as well as biomechanical and ultrastructural similarities in tissues. In this narrative review, we provide a comprehensive overview of animal models manifesting phenotypes that mimic EDS with a focus on engineered mouse and zebrafish models, and their relevance in past and future EDS research. Additionally, we briefly discuss domestic animals with naturally occurring EDS phenotypes. Collectively, these animal models have only started to reveal glimpses into the pathophysiological aspects associated with EDS and will undoubtably continue to play critical roles in EDS research due to their tremendous potential for pinpointing (common) signaling pathways, unveiling possible therapeutic targets and providing opportunities for preclinical therapeutic interventions.

Introduction: The Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobility Spectrum Disorders (G-HSD) comprise a heterogeneous group of genetic disorders of abnormal synthesis and/or maturation of collagen and other matricellular proteins. EDS is commonly characterized by manifestations such as multi joint hypermobility that can lead to musculoskeletal pains, subluxations and dislocations, fragile skin, organ dysfunction, and chronic significant diffuse pain with fatigue, deconditioning eventuating to poor quality of life. Evidence suggests exercise and rehabilitation interventions may ameliorate symptoms of unstable joints, recurrent subluxations/dislocations, and chronic widespread musculoskeletal pain. To date, there have only been a few reports describing exercise and rehabilitation care strategies for people with EDS.Methods: In this manuscript, we describe the GoodHope Exercise and Rehabilitation (GEAR) program, its overarching principles, as well as the program development and delivery model. The GEAR program aims to decrease functional impairment, reduce pain, increase confidence in symptom self-management, and provide a community of support for people with EDS/G-HSD. To achieve these goals, we detail the model of care that includes exercise and rehabilitation therapy, education for self-management, and support accessing relevant community resources.Strengths and Limitations of the Study: GEAR represents a novel exercise and rehabilitation care model for people with G-HSD and various clinical EDS subtypes, beyond the commonly included hEDS subtype. Systematic collection of data via validated measurements is ongoing and will guide the refinement of GEAR and support the development of emerging exercise and rehabilitation programs for people with EDS.

Patients with vascular Ehlers–Danlos syndrome (vEDS) have a defect in the formation of type III collagen. This defect puts patients at risk of vascular rupture, uterine rupture, and bowel perforations. The segmental absence of intestinal musculature is a rare histopathologic finding, wherein there is a lack of a muscularis propria layer in the intestinal wall. Although typically documented in the literature in neonates or adults, it can be seen in children of other ages. This is a case report of a patient who exhibits both rare entities, which has not been described in the literature to date.

Background: Ehlers-Danlos Syndromes (EDS) and Hypermobility Spectrum Disorders (HSD) are a heterogeneous group of heritable genetic connective tissue disorders with multiple characteristics including joint hypermobility, tissue fragility, and multiple organ dysfunction. Respiratory manifestations have been described in EDS patients, but have not been systematically characterized. A narrative review was undertaken to describe the respiratory presentations and management strategies of individuals with EDS and HSD. Methods: A broad literature search of Medline, Embase, Cochrane Database of Systematic Reviews, and Cochrane CENTRAL was undertaken from inception to November 2020 of all study types, evaluating EDS/ HSD and pulmonary conditions. This narrative review was limited to adult patients and publications in English. Results: Respiratory manifestations have generally been described in hypermobile EDS (hEDS), classical and vascular EDS subtypes. Depending on EDS subtype, they may include but are not limited to dyspnea, dysphonia, asthma, sleep apnea, and reduced respiratory muscle function, with hemothorax and pneumothorax often observed with vascular EDS. Respiratory manifestations in HSD have been less frequently characterized in the literature, but exertional dyspnea is the more common symptom described. Respiratory symptoms in EDS can have an adverse impact on quality of life. The respiratory management of EDS patients has followed standard approaches with thoracotomy tubes and pleurodesis for pleural manifestations, vocal cord strengthening exercises, continuous positive pressure support for sleep apnea, and exercise training. Reduced respiratory muscle function in hEDS patients responds to inspiratory muscle training. Conclusion: Respiratory symptoms and manifestations are described in EDS and HSD, and have generally been managed using conservative non-surgical strategies. Research into the prevalence, incidence and specific respiratory management strategies in EDS and HSD is needed to mitigate some of the associated morbidity.

Colonoscopies have reduced colorectal cancer (CRC) burden in the United States, and their utility has expanded to include various diagnostic and therapeutic indications. Complications are seen in up to 1% and increase with age and polypectomy. As colonoscopies become widespread, specific populations seem to be at a much higher risk; notably patients with heritable connective tissue disorders (HCTD). As life expectancy increases, these patients undergo routine screenings and require careful peri-endoscopic care to reduce adverse outcomes. Amongst HCTD, Ehlers-Danlos syndrome (EDS) is commonly implicated, however, no reports of Marfan syndrome (MS) exist. We present a unique case of splenic injury after colonoscopy in a patient with MS. Successful outcomes require early suspicion and emergent surgical evaluation in patients with hemodynamic instability after a colonoscopy. Increased ligament laxity and bowel fragility are the most likely mechanisms. Alternative CRC strategies like fecal immunochemical test (FIT), fecal occult, Cologuard, or virtual colonography can be considered.

Ehlers‐Danlos syndrome, specifically EDS4, can be a dangerous condition. Clinicians should be aware of this when referring such patients for any interventional procedure. An MDT approach should be adopted to help plan perioperative treatment and care.

The purpose of this article is to acquaint the reader with the presentation, diagnosis, and management of Ehlers-Danlos syndrome (EDS), a group of genetic connective tissue disorders. Progressive weakness of connective tissue is the underlying cause of all types of EDS. The symptoms of EDS are numerous, with variability in presentation. However, decreased quality of life caused by chronic pain and fatigue is a commonality of all types of EDS. This article will assist the nurse practitioner in recognizing EDS and offer guidance for treatment.

BACKGROUND The Ehlers-Danlos syndromes (EDSs) are a group of heritable disorders of connective tissue associated with an increased prevalence of both structural and functional GI conditions. METHODS We used 10 years (2005-2014) of administrative claims data comprised of 4294 people with clinician-diagnosed EDS, aged 5-62 years, and compared their frequency of GI drug prescription claims to their age-, sex-, state of residence-, and earliest claim date-matched controls. We categorized the GI medications into the following groups: acid suppressants, anti-emetics, irritable bowel syndrome drugs, and visceral hypersensitivity (VHS) medications. KEY RESULTS Compared to controls, a significantly higher proportion of persons with EDS had prescription claims for at least one GI drug group, as well as for drugs in each of the four GI drug groups included in our study. By age-group, 25.7% children and 45.1% adults with EDS had prescription claims for at least one GI drug group compared with only 7.4% and 21.0% of controls, respectively (p

Ehlers-Danlos syndrome is an umbrella term for a clinically and genetically heterogeneous group of hereditary soft connective tissue disorders mainly featuring abnormal cutaneous texture (doughy/velvety, soft, thin, and/or variably hyperextensible skin), easy bruising, and joint hypermobility. Currently, musculoskeletal manifestations related to joint hypermobility are perceived as the most prevalent determinants of the quality of life of affected individuals. The 2017 International Classification of Ehlers-Danlos syndromes and related disorders identifies 13 clinical types due to deleterious variants in 19 different genes. Recent publications point out the possibility of a wider spectrum of conditions that may be considered members of the Ehlers-Danlos syndrome community. Most Ehlers-Danlos syndromes are due to inherited abnormalities affecting the biogenesis of fibrillar collagens and other components of the extracellular matrix. The introduction of next-generation sequencing technologies in the diagnostic setting fastened patients' classification and improved our knowledge on the phenotypic variability of many Ehlers-Danlos syndromes. This is impacting significantly patients' management and family counseling. At the same time, most individuals presenting with joint hypermobility and associated musculoskeletal manifestations still remain without a firm diagnosis, due to a too vague clinical presentation and/or the lack of an identifiable molecular biomarker. These individuals are currently defined with the term "hypermobility spectrum disorders". Hence, in parallel with a continuous update of the International Classification of Ehlers-Danlos syndromes, the scientific community is investing efforts in offering a more efficient framework for classifying and, hopefully, managing individuals with joint hypermobility.

It is a well-known fact that people with Ehlers&ndash, Danlos syndromes (EDS) report a worse oral health-related quality of life (OHRQoL) than the general population. The aim of this study was to examine whether there is a correlation between the subjective OHRQoL and the objectively measured oral health in people with EDS. To determine the subjective OHRQoL, the German version of the 14-item Oral Health Impact Profile (OHIP-14) questionnaire was used. Furthermore, all participants in the study were clinically examined, and the measured parameters were recorded using the Physical Oral Health Index (PhOX). Altogether, records of 46 participants were collected. The median (interquartile range (IQR)) of the OHIP-14 was 17 (23) points and the median of the PhOX was 73 (16) points. However, a statistically significant correlation could not be demonstrated (r = &minus, 0.240, p = 0.108). In the observed cohort, for participants who reported having pain often or very often, the OHIP score (median = 24, IQR = 18, p &lt, 0.01) was higher than the score of the group given by participants who never or intermittently experienced pain (median = 8, IQR = 18). In conclusion, patients with EDS showed a reduced OHRQoL, although it was not possible to observe an association between the subjective OHRQoL and the objective oral health. However, participants who often or very often suffer from pain in their tooth, mouth, and jaw areas showed a reduced OHRQoL.

Purpose We describe the first case of Ehlers Danlos Syndrome (EDS) reported in the English language ophthalmic literature to have undergone Laser In Situ Keratomileusis (LASIK) surgery. Observations We review our patient's specific postoperative complications of myopic regression, Salzmann nodular degeneration, and dry eye syndrome, as well as the risks and consequences of performing LASIK on patients with this collagen disorder. Conclusions and importance Refractive errors may prompt EDS patients to seek laser vision correction, placing them at increased risk for complications such as myopic regression, keratectasia, and dry eye syndrome. Aberrant wound healing and collagen dysfunction may have influenced our patient's myopic regression and Salzmann nodule degeneration post-LASIK. Currently, EDS is considered a relative contraindication in LASIK due to a presumed higher risk of postoperative keratectasia; however, we believe it is possible that not all forms of EDS need to be an absolute contraindication to LASIK. More research is warranted to determine preoperative risk stratification for laser vision surgery in each subtype of EDS.