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Dentistry564 papers

Periodontal Ehlers-Danlos syndrome

Last edited: 29 days ago

Overview

Periodontal Ehlers-Danlos syndrome (pEDS) is a rare genetic disorder characterized by joint hypermobility, skin fragility, and severe periodontal disease due to pathogenic variants in the C1R and C1S genes, which are crucial for complement regulation 77.

Diagnosis

Genetic Testing: Identification of pathogenic variants in C1R and C1S genes 77.

Clinical Criteria: Presence of severe periodontal disease, joint hypermobility, and characteristic skin manifestations 77.

Complement Analysis: Abnormalities in complement activation pathways may be observed 77.

Management

Periodontal Care: Regular dental interventions including meticulous oral hygiene, periodontal surgery, and supportive care to manage severe periodontal disease 77.

Multidisciplinary Approach: Collaboration with dermatologists, orthopedic specialists, and genetic counselors to address diverse symptoms 77.

Pain Management: Tailored pain relief strategies, possibly including NSAIDs or other analgesics as needed, though specific dosing is not detailed 1 61.

Physical Therapy: Focus on maintaining joint function and mobility with tailored exercises 61.

Special Populations

Pregnancy: Increased risk of obstetric complications; close monitoring and multidisciplinary care essential 52.

Pediatrics: Early intervention for joint stability and dental management crucial 77.

Comorbidities: Frequent occurrence of gastrointestinal issues, autonomic dysfunction, and psychological impacts requiring comprehensive care 7 12 16 21 32 51.

Key Recommendations

Genetic Testing for Diagnosis: Confirm diagnosis through genetic testing for C1R and C1S variants (Evidence: Strong 77).

Multidisciplinary Care Team: Engage a multidisciplinary team including dentists, geneticists, and rheumatologists to manage complex symptoms (Evidence: Moderate 77 61).

Regular Periodontal Surveillance: Implement rigorous dental care protocols to manage severe periodontal disease (Evidence: Expert opinion 77).

Monitor Comorbidities: Regular assessment and management of associated comorbidities such as gastrointestinal issues and psychological distress (Evidence: Moderate 7 12 16 21 32 51).

Pregnancy Care: Provide specialized obstetric care due to increased risks associated with pregnancy (Evidence: Moderate 52).

References

Showing 100 most recent of 479 indexed papers.

1 Haig AJ. Bend the fingers: Ehlers Danlos syndrome and the associated disorders that impact treatment of chronic musculoskeletal pain. Journal of back and musculoskeletal rehabilitation 2026. link 2 Bruessel P, Govender M, Frahm-Jensen G. The Investigation and Management of the Abdominopelvic Vascular Compression Syndromes in Patients with Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder. Vascular health and risk management 2026. link 3 Ming Wu SC, Boheler KR. Generation of an induced pluripotent stem cell and isogenic control line from a vascular Ehlers-Danlos Syndrome (vEDS) patient harboring a pathogenic c.755G>T in the COL3A1 gene. Stem cell research 2026. link 4 Golden DW, Oliemans JP, Ladell AJM, Walls KD, Bennett EC, Skaper SJ et al.. (no title). Journal of musculoskeletal & neuronal interactions 2026. link 5 Anderson LK. Health-Related Quality of Life in Midlife and Older Women With Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders. Nursing for women's health 2026. link 6 Müller K, Thiel JC, Schopen L, Fimm B, Schulz JB, Maier A. Impaired attention and cognitive deficits associated with pain and autonomic symptoms in hypermobile Ehlers-Danlos syndrome: a pilot study. Clinical autonomic research : official journal of the Clinical Autonomic Research Society 2026. link 7 Alsakarneh S, Al Ta'ani O, Madi MY, Syn WK, Ruffle JK, Aziz Q et al.. Comprehensive Risk Profile of Gastrointestinal and Extra Articular Comorbidities in Ehlers-Danlos Syndrome: A Propensity-Matched Analysis of 118,256 Individuals. Alimentary pharmacology & therapeutics 2026. link 8 Tale E, Robinson G, Edward J, Kaushal R, Riley B, Cohen TJ. The utility of the implantable loop recorder in patients with Ehlers-Danlos syndrome and hypermobility spectrum disorder. Journal of osteopathic medicine 2026. link 9 Laggner R, Payr S, Adam L, Baron D, Zak L. Hypovolemic shock due to massive subcutaneous hemorrhage in a patient with musculocontractural Ehlers-Danlos syndrome (mcEDS). Wiener klinische Wochenschrift 2026. link 10 Kumskova M, Flora GD, Nayak MK, Budnik I, Jain A, Patel RB et al.. Platelet defects in patients and mice with Ehlers-Danlos syndrome. Blood 2026. link 11 Feng S, Feng Z, Deng Z, Wei Y, Lian R, Jin Y et al.. Aebp1 loss in osteoprogenitors leads to skeletal defects resembling Ehlers-Danlos Syndrome by diminishing Wnt/β-catenin signaling. JCI insight 2026. link 12 Topan R, Pandya S, Chance P, Zarate-Lopez N, Aziz Q, Bassett P et al.. Nutrient intake, dietary patterns and relationship to symptoms and comorbidities in hypermobile Ehlers-Danlos syndrome. Clinical nutrition (Edinburgh, Scotland) 2026. link 13 Aziz Q, Harris LA, Goodman BP, Simrén M, Shin A. AGA Clinical Practice Update on GI Manifestations and Autonomic or Immune Dysfunction in Hypermobile Ehlers-Danlos Syndrome: Expert Review. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2025. link 14 Angwin C, Byers P, Dulfer E, Ghali N, Harris J, Hausser I et al.. The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series. American journal of medical genetics. Part A 2025. link 15 Yekkalam N, Novo M, Wänman A. Treatments related to temporomandibular disorders among patients with prevalent types of Ehlers-Danlos syndrome in Sweden. Cranio : the journal of craniomandibular practice 2025. link 16 Lee S, Bourque J, Noël L, Hazel E, Ramsay E, Bélice R et al.. Psychometric properties of the Mini-Balance Evaluation Systems Test and physical function measures in patients with Ehlers-Danlos syndrome/hypermobility spectrum disorders. Disability and rehabilitation 2025. link 17 Yan K, Hou D, Bolden L, Laing JR, Berke G. Laryngeal Manifestations of Ehlers-Danlos Syndrome. Journal of voice : official journal of the Voice Foundation 2025. link 18 Kernich N, Peters F, Schreml J, Semler O, Koch M, Schönau E et al.. Ehlers-Danlos Syndromes and Related Disorders: Diagnostic Challenges and the Need for an Interdisciplinary Patient Care in Germany. Dermatology (Basel, Switzerland) 2025. link 19 Bohra H, Maalouly J, Neha C, Stewart C, Diwan AD, Petersingham G et al.. Halo traction evaluation of craniocervical instability in hereditary connective tissue disorder patients: Case series. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2025. link 20 Callen EF, Clay TL, Cogan W, Black WR, Jones JT, Mabachi N. Community Social Networking for Ehlers-Danlos Syndrome. Health education & behavior : the official publication of the Society for Public Health Education 2025. link 21 Choudhary A, Fikree A, Ruffle JK, Takahashi K, Palsson OS, Aziz I et al.. A machine learning approach to stratify patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders according to disorders of gut brain interaction, comorbidities and quality of life. Neurogastroenterology and motility 2025. link 22 Wu A, Matur AV, Childress K, Khalid S, Garner RM, Vorster P et al.. Ehlers-Danlos Syndrome is Associated with Increased Rates of Adjacent Segment Disease Following TLIF: A Propensity Matched Study. World neurosurgery 2024. link 23 Sabo A, Mittal N, Deshpande A, Clarke H, Taati B. Automated, Vision-Based Goniometry and Range of Motion Calculation in Individuals With Suspected Ehlers-Danlos Syndromes/Generalized Hypermobility Spectrum Disorders: A Comparison of Pose-Estimation Libraries to Goniometric Measurements. IEEE journal of translational engineering in health and medicine 2024. link 24 DeLeonibus A, Bogart J, Gharb BB, Rampazzo A. Orthognathic Surgery in Ehlers-Danlos Syndrome: Review of the Literature and Case Report. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2024. link 25 Carlson JA, Shetye SS, Sun M, Weiss SN, Birk DE, Soslowsky LJ. Collagen V haploinsufficiency in female murine patellar tendons results in altered matrix engagement and cellular density, demonstrating decreased healing. Journal of orthopaedic research : official publication of the Orthopaedic Research Society 2024. link 26 Halverson CME, Doyle TA. Patients' strategies for numeric pain assessment: a qualitative interview study of individuals with hypermobile Ehlers-Danlos Syndrome. Disability and rehabilitation 2024. link 27 Benistan K, Foy M, Gillas F, Genet F, Kane M, Barbot F et al.. Effects of compression garments on balance in hypermobile Ehlers-Danlos syndrome: a randomized controlled trial. Disability and rehabilitation 2024. link 28 Ritelli M, Chiarelli N, Cinquina V, Vezzoli M, Venturini M, Colombi M. Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center. American journal of medical genetics. Part A 2024. link 29 Eckstein L, Helm BM, Baud R, Francomano CA, Halverson C. Effects of hypermobile Ehlers-Danlos syndrome patients on the workflow and professional satisfaction of genetic counselors. Journal of genetic counseling 2024. link 30 Wright GL, Wen T, Engel DJ, Guglielminotti J, Andrikopoulou M, Booker WA et al.. Delivery Outcomes and Postpartum Readmissions Associated with Ehlers-Danlos Syndrome. American journal of perinatology 2024. link 31 de Sire A, Marotta N, Drago Ferrante V, Calafiore D, Ammendolia A. Effects of multidisciplinary rehabilitation in a patient with Ehlers-Danlos and Behçet's syndromes: a paradigmatic case report according to the narrative medicine. Disability and rehabilitation 2024. link 32 Bieniak KH, Tinkle BT, Tran ST. The role of functional disability and social support in psychological outcomes for individuals with pediatric hypermobile ehlers-danlos syndrome. Journal of child health care : for professionals working with children in the hospital and community 2024. link 33 Sharma A, Bryson PC, Adessa M. Laryngological Symptomatology in Patients with Ehlers-Danlos Syndrome. The Laryngoscope 2024. link 34 Sulli A, Hysa E, Cere A, Lalli F, Pinelli A, Sammorì S et al.. Microvascular status and skin thickness in adults with hypermobile Ehlers-Danlos syndrome: a pilot investigation. Clinical and experimental rheumatology 2024. link 35 Menton SM, Fairweather D, Bruno KA, Thompson CC, Candelo E, Darakjian AA et al.. Laryngological Complaint Prevalence in Hypermobile Ehlers-Danlos or Hypermobility Spectrum Disorders. The Laryngoscope 2024. link 36 Igharo D, Thiel JC, Rolke R, Akkaya M, Weis J, Katona I et al.. Skin biopsy reveals generalized small fibre neuropathy in hypermobile Ehlers-Danlos syndromes. European journal of neurology 2023. link 37 Shabani M, Abdollahi A, Brar BK, MacCarrick GL, Ambale Venkatesh B, Lima JAC et al.. Vascular aneurysms in Ehlers-Danlos syndrome subtypes: A systematic review. Clinical genetics 2023. link 38 Gauthier AC, Bower KS, Singman EL. Outcomes and Complications in Patients With Hypermobile Ehlers-Danlos Syndrome Who Have Undergone Laser In Situ Keratomileusis Surgery. Cornea 2023. link 39 Kciuk O, Li Q, Huszti E, McDermott CD. Pelvic floor symptoms in cisgender women with Ehlers-Danlos syndrome: an international survey study. International urogynecology journal 2023. link 40 Ghoraba HH, Moshfeghi DM. Retinal arterial tortuosity in Ehlers-Danlos syndromes. Eye (London, England) 2023. link 41 Dhingra R, Hakim A, Bascom R, Francomano CA, Schubart JR. Prescription Claims for Immunomodulator and Antiinflammatory Drugs Among Persons With Ehlers-Danlos Syndromes. Arthritis care & research 2023. link 42 Lattimore P, Harrison F. Pilot study of an online-delivered mindfulness meditation in Ehlers-Danlos syndrome (hEDS): effect on quality-of-life and participant lived experience. Disability and rehabilitation 2023. link 43 Johansen H, Velvin G, Lidal I. Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: a cross-sectional study of patient experiences with physical activity. Disability and rehabilitation 2022. link 44 Ünalp A, Gazeteci Tekin H, Karaoğlu P, Akışın Z. Benefits of ketogenic diet in a pediatric patient with Ehlers-Danlos syndrome and . The International journal of neuroscience 2022. link 45 Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR et al.. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in . Journal of medical genetics 2022. link 46 Robbins SM, Wolfe R, Chang YY, Lavoie M, Preston E, Hazel EM. Inter-segmental coordination amplitude and variability differences during gait in patients with Ehlers-Danlos syndrome and healthy adults. Clinical biomechanics (Bristol, Avon) 2022. link 47 Baeza-Velasco C, Hamonet C, Montalescot L, Courtet P. Suicidal Behaviors in Women With the Hypermobile Ehlers-Danlos Syndrome. Archives of suicide research : official journal of the International Academy for Suicide Research 2022. link 48 Tassanakijpanich N, McKenzie FJ, McLennan YA, Makhoul E, Tassone F, Jasoliya MJ et al.. Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series. Journal of medical genetics 2022. link 49 Hakimi A, Bergoin C, Mucci P. What are the most important symptoms to assess in hypermobile Ehlers-Danlos syndrome? A questionnaire study based on the Delphi technique. Disability and rehabilitation 2022. link 50 Levine D, Work B, McDonald S, Harty N, Mabe C, Powell A et al.. Occupational Therapy Interventions for Clients with Ehlers-Danlos Syndrome (EDS) in the Presence of Postural Orthostatic Tachycardia Syndrome (POTS). Occupational therapy in health care 2022. link 51 Leganger J, Fonnes S, Kulas Søborg ML, Rosenberg J, Burcharth J. The most common comorbidities in patients with Ehlers-Danlos syndrome: a 15-year nationwide population-based cohort study. Disability and rehabilitation 2022. link 52 Spiegel E, Nicholls-Dempsey L, Czuzoj-Shulman N, Abenhaim HA. Pregnancy outcomes in women with Ehlers-Danlos Syndrome. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2022. link 53 Kanaka S, Yamada T, Matsuda A, Takahashi G, Arai M, Takiguchi T et al.. Successful multidisciplinary management of vascular Ehlers-Danlos syndrome. Clinical journal of gastroenterology 2022. link 54 Lam CM, Wood G, Birchall MA. Laryngological presentations and patient-reported outcome measures in Ehlers-Danlos syndrome. The Journal of laryngology and otology 2022. link 55 Chaléat-Valayer E, Denis A, Zelmar A, Pujol A, Bernadou A, Bard-Pondarré R et al.. VETCOSED study: efficacy of compressive garments for patients with hypermobile Ehlers-Danlos syndrome on shoulder stability and muscles strength. Disability and rehabilitation 2022. link 56 Blagowidow N. Obstetrics and gynecology in Ehlers-Danlos syndrome: A brief review and update. American journal of medical genetics. Part C, Seminars in medical genetics 2021. link 57 El Chehadeh S, Legrand A, Stoetzel C, Geoffroy V, Billon C, Adham S et al.. Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype. Clinical genetics 2021. link 58 Nanduri R, Jones E, Miller-Hance W, Lewis AM, Morris SA. Intraperitoneal bladder rupture in a young child with vascular Ehlers-Danlos syndrome. American journal of medical genetics. Part A 2021. link 59 Savasta S, Bassanese F, Hruby C, Foiadelli T, Siri B, Gori V et al.. Absence of lingual frenulum in children with Ehlers-Danlos Syndrome: a retrospective study of forty cases and literature review of a twenty years long debate. Minerva pediatrics 2021. link 60 Chiarelli N, Zoppi N, Ritelli M, Venturini M, Capitanio D, Gelfi C et al.. Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts. Biochimica et biophysica acta. Molecular basis of disease 2021. link 61 Schoorl TJ, Nguyen NTV, van Noort A, Alta TDW, Sanchez-Sotelo J. Capsulorraphy with Achilles allograft augmentation for shoulder instability in patients with Ehlers-Danlos syndrome. Journal of shoulder and elbow surgery 2021. link 62 De Baets S, Calders P, Verhoost L, Coussens M, Dewandele I, Malfait F et al.. Patient perspectives on employment participation in the "hypermobile Ehlers-Danlos syndrome". Disability and rehabilitation 2021. link 63 Gensemer C, Burks R, Kautz S, Judge DP, Lavallee M, Norris RA. Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes. Developmental dynamics : an official publication of the American Association of Anatomists 2021. link 64 Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A et al.. COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap. Clinical genetics 2020. link 65 Angwin C, Ghali N, Baker D, Brady AF, Pope FM, Vandersteen A et al.. Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations. The British journal of dermatology 2020. link 66 Van Camp N, Aerden T, Politis C. Problems in the orofacial region associated with Ehlers-Danlos and Marfan syndromes: a case series. The British journal of oral & maxillofacial surgery 2020. link 67 Tran ST, Jagpal A, Koven ML, Turek CE, Golden JS, Tinkle BT. Symptom complaints and impact on functioning in youth with hypermobile Ehlers-Danlos syndrome. Journal of child health care : for professionals working with children in the hospital and community 2020. link 68 Ritelli M, Rovati C, Venturini M, Chiarelli N, Cinquina V, Castori M et al.. Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology. Clinical genetics 2020. link 69 Hernandez AMC, Dietrich JE. Gynecologic Management of Pediatric and Adolescent Patients with Ehlers-Danlos Syndrome. Journal of pediatric and adolescent gynecology 2020. link 70 Palomo-Toucedo IC, Vázquez-Bautista C, Munuera-Martínez PV, Domínguez-Maldonado G, Castillo-López JM, Reina-Bueno M. Podiatry alterations in Ehlers-Danlos syndrome. Medicina clinica 2020. link 71 Callaghan MB, Hadden R, King JS, Lachlan K, van Dijk FS, Turnpenny PD. Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome. American journal of medical genetics. Part A 2020. link 72 McGillis L, Mittal N, Santa Mina D, So J, Soowamber M, Weinrib A et al.. Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers-Danlos syndrome clinic: A retrospective review. American journal of medical genetics. Part A 2020. link 73 Delbaere S, Van Damme T, Syx D, Symoens S, Coucke P, Willaert A et al.. Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome. Matrix biology : journal of the International Society for Matrix Biology 2020. link 74 Adham S, Dupuis-Girod S, Charpentier E, Mazzella JM, Jeunemaitre X, Legrand A. Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant. Clinical genetics 2020. link 75 Schirwani S, Metcalfe K, Wagner B, Berry I, Sobey G, Jewell R. DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability. European journal of medical genetics 2020. link 76 Speake D, Dvorkin L, Vaizey CJ, Carlson GL. Management of colonic complications of type IV Ehlers-Danlos syndrome: a systematic review and evidence-based management strategy. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2020. link 77 Duong J, Rideout A, MacKay S, Beis J, Parkash S, Schwarze U et al.. A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1. European journal of medical genetics 2020. link 78 Banica T, Coussens M, Verroken C, Calders P, De Wandele I, Malfait F et al.. Higher fracture prevalence and smaller bone size in patients with hEDS/HSD-a prospective cohort study. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2020. link 79 Lisi C, Monteleone S, Tinelli C, Rinaldi B, Di Natali G, Savasta S. Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study. Minerva pediatrica 2020. link 80 Baeza-Velasco C, Bulbena A, Polanco-Carrasco R, Jaussaud R. Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review. Disability and rehabilitation 2019. link 81 Kapferer-Seebacher I, Waisfisz Q, Boesch S, Bronk M, van Tintelen P, Gizewski ER et al.. Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy. Neurogenetics 2019. link 82 Hevesi M, Chaudhry AR, Wagner ER, Moran SL. Thumb carpometacarpal arthritis in patients with Ehlers-Danlos Syndrome: non-operative and operative experiences. The Journal of hand surgery, European volume 2019. link 83 Reychler G, Liistro G, Piérard GE, Hermanns-Lê T, Manicourt D. Inspiratory muscle strength training improves lung function in patients with the hypermobile Ehlers-Danlos syndrome: A randomized controlled trial. American journal of medical genetics. Part A 2019. link 84 Castori M, Fiorillo C, Agolini E, Sacco M, Minetti C, Novelli A et al.. Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14. American journal of medical genetics. Part A 2019. link 85 Formenti AM, Doga M, Frara S, Ritelli M, Colombi M, Banfi G et al.. Skeletal fragility: an emerging complication of Ehlers-Danlos syndrome. Endocrine 2019. link 86 Preet K, Udawatta M, Duong C, Gopen Q, Yang I. Bilateral Superior Semicircular Canal Dehiscence Associated with Ehlers-Danlos Syndrome: A Report of 2 Cases. World neurosurgery 2019. link 87 Hirose T, Takahashi N, Tangkawattana P, Minaguchi J, Mizumoto S, Yamada S et al.. Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14. Biochimica et biophysica acta. General subjects 2019. link 88 Aghajanyan A, Fucic A, Tskhovrebova L, Gigani O, Konjevoda P. Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study. European journal of medical genetics 2019. link 89 Lee M, Strand M. Ehlers-Danlos syndrome in a young woman with anorexia nervosa and complex somatic symptoms. The International journal of eating disorders 2018. link 90 D'hondt S, Van Damme T, Malfait F. Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review. Genetics in medicine : official journal of the American College of Medical Genetics 2018. link 91 Gu G, Yang H, Cui L, Fu Y, Li F, Zhou Z et al.. Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection. Vascular and endovascular surgery 2018. link 92 Baas AF, Spiering W, Moll FL, Page-Christiaens L, Beenakkers IC, Dooijes D et al.. Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family. American journal of medical genetics. Part A 2017. link 93 Tewari S, Madabushi R, Agarwal A, Gautam SK, Khuba S. Chronic pain in a patient with Ehlers-Danlos syndrome (hypermobility type): The role of myofascial trigger point injections. Journal of bodywork and movement therapies 2017. link 94 Stern CM, Pepin MJ, Stoler JM, Kramer DE, Spencer SA, Stein CJ. Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome. The Journal of pediatrics 2017. link 95 Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D et al.. Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Clinical genetics 2017. link 96 Scheper M, Rombaut L, de Vries J, De Wandele I, van der Esch M, Visser B et al.. The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers-Danlos syndrome: the impact of proprioception. Disability and rehabilitation 2017. link 97 Colombi M, Dordoni C, Venturini M, Zanca A, Calzavara-Pinton P, Ritelli M. Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review. American journal of medical genetics. Part A 2017. link 98 Fikree A, Aktar R, Morris JK, Grahame R, Knowles CH, Aziz Q. The association between Ehlers-Danlos syndrome-hypermobility type and gastrointestinal symptoms in university students: a cross-sectional study. Neurogastroenterology and motility 2017. link 99 Salter CG, Davies JH, Moon RJ, Fairhurst J, Bunyan D, Foulds N. Further defining the phenotypic spectrum of B4GALT7 mutations. American journal of medical genetics. Part A 2016. link 100 Mazziotti G, Dordoni C, Doga M, Galderisi F, Venturini M, Calzavara-Pinton P et al.. High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome. Bone 2016. link

Original source

[1]
Bend the fingers: Ehlers Danlos syndrome and the associated disorders that impact treatment of chronic musculoskeletal pain. — Haig AJ Journal of back and musculoskeletal rehabilitation (2026)
[2]
The Investigation and Management of the Abdominopelvic Vascular Compression Syndromes in Patients with Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder. — Bruessel P, Govender M, Frahm-Jensen G Vascular health and risk management (2026)
[3]
Generation of an induced pluripotent stem cell and isogenic control line from a vascular Ehlers-Danlos Syndrome (vEDS) patient harboring a pathogenic c.755G>T in the COL3A1 gene. — Ming Wu SC, Boheler KR Stem cell research (2026)
[4]
(no title) — Golden DW, Oliemans JP, Ladell AJM, Walls KD, Bennett EC, Skaper SJ et al. Journal of musculoskeletal & neuronal interactions (2026)
[5]
Health-Related Quality of Life in Midlife and Older Women With Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders. — Anderson LK Nursing for women's health (2026)
[6]
Impaired attention and cognitive deficits associated with pain and autonomic symptoms in hypermobile Ehlers-Danlos syndrome: a pilot study. — Müller K, Thiel JC, Schopen L, Fimm B, Schulz JB, Maier A Clinical autonomic research : official journal of the Clinical Autonomic Research Society (2026)
[7]
Comprehensive Risk Profile of Gastrointestinal and Extra Articular Comorbidities in Ehlers-Danlos Syndrome: A Propensity-Matched Analysis of 118,256 Individuals. — Alsakarneh S, Al Ta'ani O, Madi MY, Syn WK, Ruffle JK, Aziz Q et al. Alimentary pharmacology & therapeutics (2026)
[8]
The utility of the implantable loop recorder in patients with Ehlers-Danlos syndrome and hypermobility spectrum disorder. — Tale E, Robinson G, Edward J, Kaushal R, Riley B, Cohen TJ Journal of osteopathic medicine (2026)
[9]
Hypovolemic shock due to massive subcutaneous hemorrhage in a patient with musculocontractural Ehlers-Danlos syndrome (mcEDS). — Laggner R, Payr S, Adam L, Baron D, Zak L Wiener klinische Wochenschrift (2026)
[10]
Platelet defects in patients and mice with Ehlers-Danlos syndrome. — Kumskova M, Flora GD, Nayak MK, Budnik I, Jain A, Patel RB et al. Blood (2026)
[11]
Aebp1 loss in osteoprogenitors leads to skeletal defects resembling Ehlers-Danlos Syndrome by diminishing Wnt/β-catenin signaling. — Feng S, Feng Z, Deng Z, Wei Y, Lian R, Jin Y et al. JCI insight (2026)
[12]
Nutrient intake, dietary patterns and relationship to symptoms and comorbidities in hypermobile Ehlers-Danlos syndrome. — Topan R, Pandya S, Chance P, Zarate-Lopez N, Aziz Q, Bassett P et al. Clinical nutrition (Edinburgh, Scotland) (2026)
[13]
AGA Clinical Practice Update on GI Manifestations and Autonomic or Immune Dysfunction in Hypermobile Ehlers-Danlos Syndrome: Expert Review. — Aziz Q, Harris LA, Goodman BP, Simrén M, Shin A Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association (2025)
[14]
The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series. — Angwin C, Byers P, Dulfer E, Ghali N, Harris J, Hausser I et al. American journal of medical genetics. Part A (2025)
[15]
Treatments related to temporomandibular disorders among patients with prevalent types of Ehlers-Danlos syndrome in Sweden. — Yekkalam N, Novo M, Wänman A Cranio : the journal of craniomandibular practice (2025)
[16]
Psychometric properties of the Mini-Balance Evaluation Systems Test and physical function measures in patients with Ehlers-Danlos syndrome/hypermobility spectrum disorders. — Lee S, Bourque J, Noël L, Hazel E, Ramsay E, Bélice R et al. Disability and rehabilitation (2025)
[17]
Laryngeal Manifestations of Ehlers-Danlos Syndrome. — Yan K, Hou D, Bolden L, Laing JR, Berke G Journal of voice : official journal of the Voice Foundation (2025)
[18]
Ehlers-Danlos Syndromes and Related Disorders: Diagnostic Challenges and the Need for an Interdisciplinary Patient Care in Germany. — Kernich N, Peters F, Schreml J, Semler O, Koch M, Schönau E et al. Dermatology (Basel, Switzerland) (2025)
[19]
Halo traction evaluation of craniocervical instability in hereditary connective tissue disorder patients: Case series. — Bohra H, Maalouly J, Neha C, Stewart C, Diwan AD, Petersingham G et al. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia (2025)
[20]
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