Introduction: Ehlers-Danlos Syndrome (EDS) consists of a group of diseases that imply a disorder among individuals connective tissue due to an altered collagen production. Fibrocartilaginous structures, support ligaments, disc and retrodiscal from the temporomandibular joint are composed primarily of collagen.
Objective: Identify TMJ manifestations in patients with different types of EDS. Materials and Methods: a systematic review of the literature was performed on PubMed, Scopus and Web of Science databases. Observational studies and case series reports published either in spanish or panish were included up until January 2023.
Results: 12 articles met the inclusion criterial. The prevalence of temporomandibular disorders varies from 26.6% to 100%, being EDSh the most reported subtype, whereas disc displacement with or without reduction and joint hypermobility were the most reported joint disorders.
Conclusion: Temporomandibular pathologies are common in patients with EDS, especially in those with the EDSh subtype.
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http://dx.doi.org/10.21142/2523-2754-1103-2023-164 | DOI Listing |
MicroPubl Biol
January 2025
Department of Molecular Medicine, College of Veterinary Medicine, Cornell University, Ithaca, New York, United States.
Mutations in the collagen-modifying enzyme lysyl hydroxylase 1 (LH1) cause Warmblood Fragile Foal Syndrome (WFFS) in horses. We investigated the impact of this mutation on collagen structure and function. Our results show that LH1 deficiency leads to reduced lysine hydroxylation, altered collagen fibril organization, and tissue abnormalities resembling human Ehlers-Danlos syndrome.
View Article and Find Full Text PDFJ Patient Exp
January 2025
Department of Biology, University of North Carolina Pembroke, Pembroke, NC, USA.
Dysautonomia refers to any disorder involving altered function of the autonomic nervous system. Dysautonomia can be debilitating as it often affects multiple organ systems. The diagnostic journey for individuals affected by dysautonomia can be hindered by symptom overlap with other conditions and by limited access to autonomic specialists.
View Article and Find Full Text PDFJCI Insight
January 2025
Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, United States of America.
Aortic dissection or rupture is a major cause of mortality in vascular Ehlers-Danlos Syndrome (vEDS), a connective tissue disorder caused by heterozygous mutations in the COL3A1 gene. C57BL6/J (BL6) mice carrying the Col3a1 G938D/+ mutation recapitulate the vEDS vascular phenotype and die suddenly of aortic rupture/dissection. However, 129S6/SvEvTac (129) mice expressing the same Col3a1 G938D/+ mutation show near-complete life-long protection from vascular rupture.
View Article and Find Full Text PDFJSES Int
November 2024
Division of Shoulder Surgery, Department of Orthopaedic Surgery, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Background: Joint hypermobility syndrome (JHS) and Ehlers-Danlos Syndrome (EDS) are connective tissue disorders characterized by increased joint laxity, affecting musculoskeletal health and quality of life. In this study, we explored recent trends in surgical treatment of shoulder instability among patients with these disorders.
Methods: We searched the PearlDiver Mariner database, which includes deidentified US all-payer claims data from 2010 to 2020.
Forensic Sci Med Pathol
January 2025
Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Spontaneous pneumothorax (SP) is a condition defined by abnormal gas accumulation in the chest cavity. Mutations of the collagen type III alpha 1 chain, COL3A1 gene, are primarily linked to vascular Ehlers-Danlos syndrome (vEDS); however, they can also contribute to structural changes in the tissue, like bullae of the lungs. In this case report, we present a young, thinly built boy who died due to a spontaneous pneumothorax.
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