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Purpose: Narrative Medicine complements the clinically centered approach, which focuses on the analytical and sanitary aspects, with the illness- and disorder- centered models, which deal respectively, with personal coping and social perception of a condition. Hypermobile Ehlers- Danlos Syndrome and Behçet's Disease are two rare multisystemic chronic disease experienced a myriad of clinical symptoms, psychological distress, and poor quality of life. The purpose of this report is to describe application of a multidisclipinary rehabilitation intervention according to the narrative medicine. Case description and Intervention: a 35-year-old woman with a 23-year history of Hypermobile Ehlers-Danlos Syndrome and Behçet's Disease was admitted. A multimodal rehabilitation approach was implemented and described through the patient's feelings and expected short-, medium-, and long- terms goals. Moreover, she reported her feeling with periodical interview by her therapist. History patient: The patient was seen for 32 weeks. A decreased pain, as well as improved function was recorded immediately post-intervention. Conclusion: Narration is not just an interpretation of the illness experience, but the result of reshaping the interpretations of the story that both patient and health professional. This discipline provides enrichment of care, especially when combined with rehabilitation in chronic disease, by paying attention to and using even in the therapeutic phase the stories of patients, family and health care personnel, giving the opportunity to define a tailored effectiveness rehabilitation approach at the light of the different points of view of the subjects. IMPLICATIONS FOR REHABILITATION: Narrative Medicine might play a key role in an interpretation of the illness experience to implement a multidisciplinary tailored rehabilitation approach. Narrative Medicine can help understand discomfort and difficulty associated with rehabilitation activities, thereby enhancing patient motivation and participation in interdisciplinary care. The Ehlers–Danlos Syndrome is a heterogeneous group of heritable connective tissue disorders representing a challenge in rehabilitation. Behçet's Disease is a rare multisystemic chronic disease experiencing an impaired function and a poor quality of life. A patient-oriented multimodal rehabilitation showed to be a useful approach in the case with both diseases, with a reduction of pain and an improvement of functioning. [ABSTRACT FROM AUTHOR]

Hypermobility describes the movement of joints beyond normal limits. Whether hypermobility predisposes to patellar instability is yet to be established. We aimed to determine if joint hypermobility leads to an increased risk of patellar instability, and to evaluate outcomes of treatment for patellar instability in those who exhibit hypermobility. Published and unpublished literature databases were searched to September 7, 2023. Studies comparing prevalence of patellar dislocation/differences in treatment outcomes in patients with and without hypermobility were included. We identified 18 eligible studies (4,391 patients). The evidence was low in quality. A case series on 82 patients found that there was a relationship between generalised joint laxity and patellar instability. This was corroborated by a study comparing 104 patients with patellar dislocation to 110 patients without. Prevalence of generalised joint laxity was six time higher in the former (64.4% vs 10.9%, p < 0.001). Five studies found surgical intervention aimed at correcting patellar dislocation in patients with idiopathic hypermobility led to satisfactory outcomes. There was conflicting evidence regarding if hypermobile patients have worse outcomes than non-hypermobile patients following medial patellofemoral ligament reconstruction (MPFLR) in two studies. In addition, this procedure had a 19.1% failure rate in patients with Ehlers Danlos Syndrome (EDS), with hypermobility associated with a higher failure rate (p = 0.03). One study showed the type of graft used made no difference in outcome scores or re-dislocation rates (p > 0.5). Another study had 7/31 (22.6%) autografts which failed, compared to 2/16 allografts (12.5%) (p = 0.69). Joint hypermobility is a risk factor for patellar instability. Identification of at-risk groups may aid prevention of dislocations and allow for appropriate treatment. Patients with EDS experience poor outcomes following patellar stabilization surgery, with post-operative monitoring required. [ABSTRACT FROM AUTHOR]

Background: Ehlers-Danlos syndrome (EDS) is a hereditary disease characterised by joint hypermobility, skin hyperextensibility and tissue fragility. Hypermobile EDS (hEDS is the more frequent subtype. Joint surgery may benefit certain patients after failure of medical treatments, but there is no consensus on the optimal surgical management of patients with hEDS. The aims of this retrospective study were to chart the surgical management of patients with hEDS, to determine the role of arthroscopy and to evaluate the functional results of joint surgery, including the reintervention rates. Results: A total of 69 patients with non-vascular EDS were evaluated (60 female; 87%). Mean (SD) age at first surgery was 25.6 ± 11.1 years. Among the 69 patients, first surgeries were carried out on the knee (n = 50; 39.4%), ankle (n = 28; 22.0%), shoulder (n = 22; 17.3%), wrist (n = 18; 14.2%) and elbow (n = 9; 7.1%). One-fifth of all first operations (20.8%) were carried out by arthroscopy, most often on the knee (36% of knee surgery cases). At the time of primary surgery, the surgeon was alerted to the diagnosis or suspicion of hEDS in only 33.9% of patients. The rate of reoperations (2 to ≥ 5) was 35.7% (10/28) for the ankle, 40.9% (9/22) for the shoulder, 44.4% (4/9) for the elbow, 50% (9/18) for the wrist and 60% (30/50) for the knee. Local or regional anaesthesia was badly tolerated or ineffective in 27.8%, 36.4% and 66.6% of operations on the wrist, shoulder and elbow, respectively. Overall, the majority of patients (> 70%) were satisfied or very satisfied with their surgery, particularly on the non-dominant side. The lowest satisfaction rate was for shoulder surgery on the dominant side (58.3% dissatisfied). Conclusions: Surgery for joint instability has a greater chance of success when it is carried out in patients with a known diagnosis of EDS before surgery. The majority of patients were satisfied with their surgery and, with the exception of the knee, there was a low rate of reoperations (≤ 50%). Arthroscopic procedures have an important role to play in these patients, particularly when surgery is performed on the knee. [ABSTRACT FROM AUTHOR]

Hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) are the most common joint hypermobility conditions encountered by physicians, with hypermobile and classical EDS accounting for >90% of all cases. Hypermobility has been detected in up to 30-57% of patients with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), fibromyalgia, postural orthostatic tachycardia syndrome (POTS), and long COVID (LC) compared to the general population. Extrapulmonary symptoms, including musculoskeletal pain, dysautonomia disorders, cognitive disorders, and fatigue, are seen in both LC and HSD. Additionally, ME/CFS has overlapping symptoms with those seen in HSD. Mast cell activation and degranulation occurring in both LC and ME/CFS may result in hyperinflammation and damage to connective tissue in these patients, thereby inducing hypermobility. Persistent inflammation may result in the development or worsening of HSD. Hence, screening for hypermobility and other related conditions including fibromyalgia, POTS, ME/CFS, chronic pain conditions, joint pain, and myalgia is essential for individuals experiencing LC. Pharmacological treatments should be symptom-focused and geared to a patient's presentation. Paced exercise, massage, yoga, and meditation may also provide benefits. [ABSTRACT FROM AUTHOR]

There has been an increasingly reported association between Ehlers-Danlos syndrome (EDS), postural orthostatic tachycardia syndrome (POTS) and gastrointestinal disorders. EDS is a hereditary connective tissue disorder which may manifest as a spectrum of symptoms stemming from collagen defects. The prevalence of EDS is estimated to affect 1 in 5000 individuals which underscores its clinical significance. Notably the hypermobile form (hEDS) accounts for the majority of cases. POTS is characterized by orthostatic intolerance with an increase in heart rate on standing in the absence of hypotension. This condition predominantly affects women between 15 and 45  years of age. Gastrointestinal symptoms in the form of reflux, bloating and abdominal pain significant impact this population. Gastroparesis is a chronic disorder involving symptoms of delayed gastric emptying and may be closely associated with hEDS and POTS, and may be underreported. Autonomic dysfunction associated with hEDS has been proposed as the likely mechanism underlying POTS and gastrointestinal dysfunction though a clear pathophysiological process has not been established. [ABSTRACT FROM AUTHOR]

Introduction: Hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) are often accompanied by varied and complex multisystemic comorbid symptoms/conditions. The Spider questionnaire was developed to evaluate the presence and impact of eight common multisystemic comorbidities. Thirty-one questions across eight symptom domains assess neuromusculoskeletal, pain, fatigue, cardiac dysautonomia, urogenital, gastrointestinal, anxiety, and depression symptoms. This study aimed to evaluate the Spider's construct validity in adults. Method: A cross-sectional observational study was conducted over four stages. Three international patient charities aided recruitment of participants through social media and website advertisements. Adults aged 18 to 65 years, with and without HSD/hEDS, were invited to participate. Validated, frequently used comparator questionnaires were used to establish convergent validity of Spider symptom domains. A control group was recruited for known-group validity analysis. Participants answered each Spider domain and the corresponding comparator questionnaire via surveys hosted by REDCap. Anonymous data were analysed using SPSS. Convergent validity was assessed through Spearman's correlational analysis and known-group validity through Mann–Whitney U analysis. Results: A total of 11,151 participants were recruited across the four stages. Statistically significant, moderate-to-strong correlations were found between all Spider domains and their comparators (p < 0.001, r = 0.63 to 0.80). Known-group validity analysis showed statistically significant differences (p < 0.001) between the hypermobile and control groups in all eight domains. Conclusions: Convergent and known-group validity of the Spider was established with adults. These results suggest the Spider can measure the presence and impact of multisystemic comorbid symptoms/conditions in adults with HSD/hEDS, providing a tool which guides multidisciplinary management. Key Points • The Spider questionnaire is a novel tool assessing the presence and impact of the multisystemic comorbid symptoms/conditions associated with HSD/hEDS. • Convergent and known-group validity of the Spider questionnaire was established in adults aged 18 to 65. • This tool provides a quick and easy method to visualise the symptom profile of those with HSD/hEDS to guide symptom management. [ABSTRACT FROM AUTHOR]

Purpose: Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorders (HSD) are understudied conditions characterized by hallmark hypermobility and chronic pain. Disease manifestations lead to significant disability. Understanding predictors of disability, over and above the univariate construct of pain severity, is necessary to tailor treatment. Thus, the current study examined the impact of the Fear-Avoidance Model [FAM] on disability in hEDS/HSD. Fear of falling was included as a novel fear-avoidance factor impacting disability. Methods: A total of 168 individuals with hEDS/HSD answered a cross-sectional online survey regarding FAM constructs, fear of falling, disability, and clinical-demographic factors. A hierarchical regression analysis was used to assess whether FAM constructs and fear of falling significantly predicted disability, over and above pain severity and age. Results: Pain catastrophizing, anxiety, and fear of falling contributed significant unique predictive relations, above age and average pain severity. Pain severity and fear of falling were the strongest unique predictors of disability. Conclusions: This is the first study to assess the relations among FAM constructs, pain severity, and disability in hEDS/HSD, and introduces fear of falling as a novel fear-avoidance factor specific to this population. Future research should apply these findings towards individualized interventions to improve disability in hEDS/HSD. IMPLICATIONS FOR REHABILITATION: Disability is significant in hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders, and may be predicted by psychosocial factors of anxiety, pain catastrophizing, and fear of falling. Our findings suggest that improving disability in hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders involves the consideration of physical factors, such as pain severity, along with psychosocial factors, the latter of which are amenable to change through individualized intervention plans. Fear of falling is a novel fear-avoidance construct that should be considered in future research and clinical settings to increase functionality in this frequently falling population. [ABSTRACT FROM AUTHOR]

Background: Dermatofibromas, also known as benign fibrous histiocytomas, are among the most common cutaneous soft-tissue lesions. Association of multiple dermatofibromas with some diseases was described and it has not been reported with Ehlers–Danlos syndrome before. We present a case with Ehlers–Danlos syndrome and multiple dermatofibromas. Case presentation: An 18-year-old Iranian woman presented with multiple purple nodules ranging from 0.5 to 1.5 cm in diameter, which were mobile and located on the proximal part of the lower limb. The dimple sign of these lesions was positive. During the physical examination, several features suggestive of Ehlers–Danlos syndrome were observed, including hyperextensibility and fragility of the skin, wide atrophic scars on the upper limb, hypermobility of joints and fingers, swan neck deformities of the digits, nodules on the knee, and striae alba on the leg. The patient was previously unaware of having Ehlers–Danlos syndrome. She had a history of asthma and atopic dermatitis. Family history was negative. A biopsy of the nodular lesions was performed, and the findings confirmed the diagnosis of dermatofibromas. Conclusion: We describe a patient with Ehlers–Danlos Syndrome who presented with multiple dermatofibromas. To our knowledge, this combination of findings is a previously unreported occurrence. [ABSTRACT FROM AUTHOR]

Background: Ehlers–Danlos syndrome (EDS) is a rare inherited connective tissue disease characterized by hyperextensibility of the skin and joints and tissue fragility of the skin and blood vessels, Vascular EDS is the most severe form of EDS, with abnormal arterial fragility. There have been no reports of breast cancer occurring in patients with vascular EDS. Here, we report here a very rare case of breast cancer in a patient with vascular EDS. Case presentation: A 46-year-old woman with vascular EDS underwent partial left mastectomy and sentinel lymph node biopsy for left breast cancer (cStage 0) detected by medical examination. The final pathological diagnosis was invasive ductal carcinoma of the breast (pStage IA) [hormone receptor-positive, HER2 score 2 equivocal (FISH-positive), Ki-67LI 18%, luminal-HER2 type]. BluePrint was submitted as an aid in determining the postoperative treatment strategy, BluePrint Molecular Subtype HER2-type. However, the 10-year breast cancer mortality risk using Predict was low (5%). After consultation with the patient, the decision was made to administer postoperative radiation to the preserved breast along with hormone therapy only. There was no delay in postoperative wound healing, and the patient was free of metastatic recurrence for 9 months after surgery. Conclusion: We performed surgery, postoperative radiotherapy, and hormonal therapy in a breast cancer patient with vascular EDS without major complications. [ABSTRACT FROM AUTHOR]

Ehlers-Danlos syndromes (EDS) represent a group of rare genetic disorders affecting connective tissues. Globally, approximately 1.5 million individuals suffer from EDS, with 10,000 reported cases in Canada alone. Understanding the histological properties of collagen in EDS has been challenging, but advanced techniques like atomic force microscopy (AFM) have opened up new possibilities for label-free skin imaging. This approach, which explores Type I collagen fibrils at the nanoscale, could potentially enhance EDS diagnosis and our knowledge of collagen type I-related connective tissue disorders. In the current study, we have employed AFM to examine ex-vivo skin biopsies from four individuals: one with classical EDS (cEDS), one with hypermobile EDS (hEDS), one with hEDS and Scleroderma (hEDS-Scleroderma), and one healthy control. Picrosirius red (PS) staining was used to highlight collagen differences in the samples. For each case, 14 images and 1400 force curves were obtained, with seven images and 700 force curves representing healthy collagen (PS-induced red staining) and the rest showcasing disrupted collagen (yellow staining). The results showed that PS staining was uniform throughout the control section, while cEDS and hEDS displayed localized areas of yellow staining. In the case of hEDS-Scleroderma, the yellow staining was widespread throughout the section. AFM images revealed irregular collagen fibrils in the disrupted, yellow-stained areas, contrasting with aligned and well-registered collagen fibrils in healthy, red-stained regions. Additionally, the study assessed the ability of non-AFM specialists to differentiate between healthy and disrupted collagen in AFM images, yielding substantial agreement among raters according to Fleiss's and Cohen's kappa scores (0.96 and 0.79±0.1, respectively). Biomechanical analysis revealed that normal healthy collagen exhibited a predominant population at 2.5 GPa. In contrast, EDS-affected collagen displayed subpopulations with lower compressive elastic modulus, indicating weaker collagen fibrils in EDS patients. Although these findings pertain to a limited number of cases, they offer valuable insights into the nanoscale collagen structure and biomechanics in individuals with EDS. Over time, these insights could be developed into specific biomarkers for the condition, improving diagnosis and treatment for EDS and related connective tissue disorders. [ABSTRACT FROM AUTHOR]

Background: Ehlers–Danlos syndrome (EDS), Marfan syndrome (MFS), and Loeys–Dietz syndrome (LDS) are connective tissue disorders frequently associated with vascular aneurysm formation, dissections, and subsequent major complications. Regular imaging surveillance is recommended for these conditions. However, no guidelines currently exist regarding imaging modality or surveillance intervals. Methods: This retrospective single-center observational study analyzed clinical and imaging data of patients attending an outpatient clinic for vascular connective tissue disorders between August 2008 and January 2024. Imaging (1424 data points in total) and clinical data were extracted from electronic health records. Analysis primarily included a comparison of vessel diameter progression across imaging modalities, with an additional review of the clinical history of vascular events. Results: In total, 19 patients with vascular connective tissue disorders (vCTDs) underwent consultations at our outpatient clinic. Nine (47.4%) patients experienced vascular events, while two (10.5%) passed away during the study period. Multimodal imaging surveillance revealed a tendency towards arterial diameter increase. Consistent ultrasound monitoring provided more reliable diameter progression data for the same arterial segment than a combination of imaging modalities. Temporal analysis indicated a tendency for the continuous growth of the abdominal aorta, the common and internal carotid artery, and the common femoral and popliteal artery. Conclusion: The study highlights the importance of standardized, modality-specific imaging protocols in monitoring patients with vCTDs. The variability in disease progression among these patients further complicates surveillance strategies, contemplating the need for individualized approaches. Further research and prospective multicenter studies are required to refine and improve monitoring protocols. [ABSTRACT FROM AUTHOR]

Objective: To assess the complex management of arterial anomalies in Vascular Ehlers-Danlos Syndrome (vEDS). Methods: We report the case of a 34-year-old male, diagnosed with vEDS, who presented with acute intraperitoneal hemorrhage caused by the rupture of a splenic artery aneurysm, treated in emergency with coil embolization and splenectomy. Computed Tomography (CT) scan showed the concomitant presence of right renal artery (RRA) and common hepatic artery (CHA) aneurysms. Results: Both aneurysms were conservatively managed and the patient went through serial CT imaging. After 3 months, rapid regression of the vascular abnormalities led to complete disappearing of RRA and CHA aneurysms, confirmed at 24-month imaging follow-up. In the same time span, two pseudoaneurysms developed in other sites used for transarterial access, requiring two secondary interventions. The present case emphasizes the unpredictability of disease's evolution and arterial complications in vEDS. Conservative management of complex lesions such as visceral artery aneurysms, which in this case resulted to be the best strategy, avoided the risks associated with surgical intervention in such fragile tissues. The reported complications underline that operative indications should be carefully weighed in these patients. [ABSTRACT FROM AUTHOR]

An increasing number of reports suggest an association between a newly recognized disease cluster and significant and often disabling gastrointestinal (GI) symptoms. This cluster is composed of diagnoses of hypermobility spectrum disorders (HSDs) such as joint hypermobility and hypermobile variant Ehlers-Danlos syndrome (hEDS), postural orthostatic tachycardia syndrome (POTS), and mast cell activation syndrome (MCAS). The diagnosis of these entities remains a challenge, as the pathophysiology of each has not been completely elucidated and the diagnostic criteria continue to evolve. This article describes a cohort of young adult females who shared similar GI symptoms, with intractable nausea and vomiting being most prominent and gastroesophageal reflux disease and constipation also occurring. Most strikingly, these females also exhibited or reported a history of HSD, hEDS, POTS, and/or MCAS. The clinical course of their GI symptoms was remarkable for considerable challenges in management, and artificial nutritional support proved necessary for some. This article describes the clinical features and outcomes of their GI manifestations, examines how these manifestations might be linked to their systemic syndromes, and discusses whether a shared pathophysiology exists. Pending the definition of a common thread between these conditions, this article seeks to raise awareness of their clinical definitions and foster research that will hopefully improve outcomes for these patients. [ABSTRACT FROM AUTHOR]

This document is a collection of abstracts from the Winter Meeting of the Journal of Pathology, covering various topics in pathology and precision medicine. The abstracts provide insights into research on T-cell dynamics in colorectal cancer, myoepithelial cells in breast cancer, biomarkers in lymphoproliferative disorders, and more. One study validates an AI test for prognostication in advanced prostate cancer, while others discuss post-mortem examinations, rare cases of diseases, and the impact of sex on oesophageal carcinoma outcomes. The document also includes studies on ketamine cystitis, primary breast lymphoma, and gene editing in hematopoietic stem cells. These abstracts offer valuable information for researchers and healthcare professionals. [Extracted from the article]

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Background: Generalized joint hypermobility as a characteristic feature of Ehlers–Danlos syndromes (EDS) is among the factors contributing to temporomandibular disorders (TMD). Objective: To evaluate the prevalence of TMD symptoms and their risk factors among women born in Sweden or Finland who were 27‐ to 78‐year‐olds with diagnosed hypermobile EDS (hEDS). Methods: A cohort of women with confirmed hEDS (n = 185) was constructed from the members of the National EDS Associations in both countries. Based on questionnaire data, frequency of independent variables in terms of socio‐demographic, general health and oral health‐related factors, comorbid symptoms and psychological distress for self‐reported TMD symptoms as the dependent variables, were calculated first. Prevalence ratios (PR) and their 95% confidence interval (95% CI) were estimated for the association between independent and dependent variables. Results: Nearly all participants reported TMD symptoms (98%) with TMD pain (95%), TMJ clicking (90%) and jaw fatigue (80%) as the most common symptoms and TMJ crepitation (63%) and luxation (44%) as the least common symptoms. Risk factors for TMD among 27‐ to 50‐year‐olds participants were Finland as a country of birth, living alone and self‐reported worst pain in the body (not the joints). The respective risk factors among the 51‐ to 78‐year‐olds were Finland as a country of birth, family history of EDS, tinnitus and regularly taking contraceptives. Conclusions: Among adult women with confirmed hEDS, socio‐demographic and health‐related factors and comorbid symptoms were significantly associated with TMD but with differences regarding age group. Therefore, management of TMD requires a multidisciplinary approach among the affected. [ABSTRACT FROM AUTHOR]

Abstract A 26-year-old man with Ehlers-Danlos syndrome, recurrent otitis externa, and chronic otitis media sustained a left lower extremity amputation and open femur fracture with internal hardware fixation after a motor vehicle collision in Arizona. He presented to the emergency department at our institution with severe left leg pain and purulent discharge despite receiving two unidentified antibiotics upon discharge. Evaluations revealed an abscess and malunion of the femur. Initial cultures yielded scant Priestia endophytica, leading to daptomycin treatment. His condition worsened until Gram-positive bacilli identified as Mycobacterium goodii, a rare nosocomial mycobacterial species, were found. Significant improvement occurred with appropriate antibiotics. This case highlights the challenges in diagnosing and managing M. goodii infections in immunocompromised patients with orthopedic complications and notes P. endophytica as a previously unreported, possibly opportunistic human pathogen.

Abstract Background Ehlers-Danlos syndrome (EDS) is a hereditary disease characterised by joint hypermobility, skin hyperextensibility and tissue fragility. Hypermobile EDS (hEDS is the more frequent subtype. Joint surgery may benefit certain patients after failure of medical treatments, but there is no consensus on the optimal surgical management of patients with hEDS. The aims of this retrospective study were to chart the surgical management of patients with hEDS, to determine the role of arthroscopy and to evaluate the functional results of joint surgery, including the reintervention rates. Results A total of 69 patients with non-vascular EDS were evaluated (60 female; 87%). Mean (SD) age at first surgery was 25.6 ± 11.1 years. Among the 69 patients, first surgeries were carried out on the knee (n = 50; 39.4%), ankle (n = 28; 22.0%), shoulder (n = 22; 17.3%), wrist (n = 18; 14.2%) and elbow (n = 9; 7.1%). One-fifth of all first operations (20.8%) were carried out by arthroscopy, most often on the knee (36% of knee surgery cases). At the time of primary surgery, the surgeon was alerted to the diagnosis or suspicion of hEDS in only 33.9% of patients. The rate of reoperations (2 to ≥ 5) was 35.7% (10/28) for the ankle, 40.9% (9/22) for the shoulder, 44.4% (4/9) for the elbow, 50% (9/18) for the wrist and 60% (30/50) for the knee. Local or regional anaesthesia was badly tolerated or ineffective in 27.8%, 36.4% and 66.6% of operations on the wrist, shoulder and elbow, respectively. Overall, the majority of patients (> 70%) were satisfied or very satisfied with their surgery, particularly on the non-dominant side. The lowest satisfaction rate was for shoulder surgery on the dominant side (58.3% dissatisfied). Conclusions Surgery for joint instability has a greater chance of success when it is carried out in patients with a known diagnosis of EDS before surgery. The majority of patients were satisfied with their surgery and, with the exception of the knee, there was a low rate of reoperations (≤ 50%). Arthroscopic procedures have an important role to play in these patients, particularly when surgery is performed on the knee.

Abstract Background Dermatofibromas, also known as benign fibrous histiocytomas, are among the most common cutaneous soft-tissue lesions. Association of multiple dermatofibromas with some diseases was described and it has not been reported with Ehlers–Danlos syndrome before. We present a case with Ehlers–Danlos syndrome and multiple dermatofibromas. Case presentation An 18-year-old Iranian woman presented with multiple purple nodules ranging from 0.5 to 1.5 cm in diameter, which were mobile and located on the proximal part of the lower limb. The dimple sign of these lesions was positive. During the physical examination, several features suggestive of Ehlers–Danlos syndrome were observed, including hyperextensibility and fragility of the skin, wide atrophic scars on the upper limb, hypermobility of joints and fingers, swan neck deformities of the digits, nodules on the knee, and striae alba on the leg. The patient was previously unaware of having Ehlers–Danlos syndrome. She had a history of asthma and atopic dermatitis. Family history was negative. A biopsy of the nodular lesions was performed, and the findings confirmed the diagnosis of dermatofibromas. Conclusion We describe a patient with Ehlers–Danlos Syndrome who presented with multiple dermatofibromas. To our knowledge, this combination of findings is a previously unreported occurrence.

Ehlers-Danlos syndrome (EDS) is one of the most common congenital connective tissue disorders affecting the synthesis and production of collagen cells. Medical implications on joints, muscles, soft tissue, and blood circulation have been documented in the literature. Many oral manifestations are displayed in EDS patients, including gingival recession, lack of attached gingiva, early severe periodontitis, dental anomalies, and dental caries. However, the literature is limited, is often contradictory, and provides no consensus for guidelines regarding prosthodontic, periodontal, and implant treatment of patients with EDS. Therefore, the aim of this systematic review is to analyze the pertinent literature regarding prosthodontics, periodontology, and implant dentistry in EDS patients. [ABSTRACT FROM AUTHOR]

Patients with joint-hypermobility and joint-hypermobility spectrum disorders (HSD), including hypermobile Ehlers-Danlos Syndromes (EDS) present numerous co-morbid concerns, and multidisciplinary care has been recommended. The complexity of these patient's needs and increased demand for medical services have resulted in long delays for diagnosis and treatment and exhausted extant clinical resources. Strategies must be considered to ensure patient needs are met in a timely fashion. This opinion piece discusses several potential models of care for joint-hypermobility disorders, several ways in which primary providers can be involved, and argues that primary providers should be an essential and integrated part of the management of these patients, in collaboration with multidisciplinary teams and pediatric subspecialists. We review several strategies and educational opportunities that may better incorporate primary providers into the care and management of these patients, and we also discuss some of the limitations and barriers that need to be addressed to improve provision of care. This includes establishing primary care physicians as the medical home, providing initial diagnostic and treatment referrals while connecting patients with specialty care, and collaboration and coordination with multi-disciplinary teams for more complex needs. Several barriers exist that may hamper these efforts, including a lack of available specialty trainings for providers interested in providing care to patients with EDS and HSD, a lack of expertly derived consensus guidelines, and limited time resources in extant primary care practices. Also, primary providers should have an active voice in the future for the further consideration and development of these presented strategies. [ABSTRACT FROM AUTHOR]

Ehlers-Danlos Syndrome (EDS) is a group of congenital connective tissue disorders that commonly affect joints, muscles, soft tissue, and blood circulation in the affected population. Many oral manifestations are displayed in EDS patients that can include gingival recession, lack of attached gingiva, early severe periodontal disease, and dental caries. However, the literature is limited and oftentimes contradictory regarding dental implants in EDS patients. The aim of this study is to report two successful cases of implants placed in EDS patients, one treated with bone augmentation and both restored with prosthetic implant rehabilitations. [ABSTRACT FROM AUTHOR]

Collagen, the most abundant protein in the body, is a key component of the extracellular matrix (ECM), which plays a crucial role in the structure and support of connective tissues. Abnormalities in collagen associated with connective tissue disorders (CTD) can lead to neuroinflammation and weaken the integrity of the blood-brain barrier (BBB), a semi-permeable membrane that separates the brain's extracellular fluid from the bloodstream. This compromise in the BBB can result from disruptions in ECM components, leading to neuroinflammatory responses, neuronal damage, and increased risks of neurological disorders. These changes impact central nervous system homeostasis and may exacerbate neurological conditions linked to CTD, manifesting as cognitive impairment, sensory disturbances, headaches, sleep issues, and psychiatric symptoms. The Ehlers-Danlos syndromes (EDS) are a group of heritable CTDs that result from varying defects in collagen and the ECM. The most prevalent subtype, hypermobile EDS (hEDS), involves clinical manifestations that include joint hypermobility, skin hyperextensibility, autonomic dysfunction, mast cell activation, chronic pain, as well as neurological manifestations like chronic headaches and cerebrospinal fluid (CSF) leaks. Understanding the connections between collagen, CSF, inflammation, and the BBB could provide insights into neurological diseases associated with connective tissue abnormalities and guide future research. [ABSTRACT FROM AUTHOR]

Introduction: Ehlers-Danlos syndromes (EDS) is an umbrella term for a group of hereditary connective tissue disorders usually featuring hyperextensible skin, easy bruising, poor healing, and joint hypermobility. According to international Ehlers-Danlos support groups, the average time to diagnosis of this rare genetic condition is 10–12 years. Consequently, the journey to diagnosis can potentially be traumatic. This pilot study aims to explore female patients' journey to a diagnosis of EDS while living in Australia. Materials and methods: Over six weeks, from January to February 2023, a survey was distributed on EDS social media platforms including Facebook and LinkedIn. Ethical approval was obtained through the Ulster University Institute of Nursing and Health Research Ethics Filter Committee (FCNUR). Thematic and statistical analysis of the anonymous data was completed during March 2023. Results: 152 women completed the survey. More than half of the respondents first noticed symptoms of EDS more than 15 years prior to diagnosis and more than three quarters of respondents received other diagnoses prior to their EDS diagnosis. Most respondents saw their general practitioner, a physiotherapist and/or a rheumatologist prior to being correctly diagnosed with the condition. While some respondents had positive experiences with these health professionals, many felt that they were not listened to and, after doing their own research, had to educate their health professional/s about EDS. Conclusion: This pilot survey demonstrated that the journey to diagnosis of EDS for women in Australia is frequently long and traumatic. Participants indicated that more EDS education and training is needed for health professionals, especially GPs, to improve the diagnostic process. Implications for practice: Participants called for their self-reported symptoms to be listened to by health professionals and to be met with empathy and an open mind instead of being dismissed. Additional education and training to health professionals about connective tissue disorders including EDS may aid earlier diagnosis in Australia. [ABSTRACT FROM AUTHOR]