The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder. © 2017 Wiley Periodicals, Inc.
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http://dx.doi.org/10.1002/ajmg.c.31538 | DOI Listing |
Biomedicines
November 2024
Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
: Dominant mutations in are known to cause vascular Ehlers-Danlos syndrome (vEDS) by impairing extracellular matrix (ECM) homeostasis. This disruption leads to the fragility of soft connective tissues and a significantly increased risk of life-threatening arterial and organ ruptures. Currently, treatments for vEDS are primarily symptomatic, largely due to a limited understanding of its underlying pathobiology and molecular mechanisms.
View Article and Find Full Text PDFBMJ Open
January 2025
Regional Center of Ehlers-Danlos Syndrome, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Objective: This study investigates the prevalence and underlying factors of fatigue in individuals with Marfan syndrome (MFS) and hypermobile Ehlers-Danlos syndromes (hEDS), highlighting the necessity for focused research on this symptom within these patient populations.
Design: Cross-sectional, multicentre study.
Setting: Data were collected from participants diagnosed with MFS or hEDS across multiple healthcare centres.
BMJ Case Rep
January 2025
Medical Department, Lyell McEwin Hospital, Elizabeth Vale, South Australia, Australia.
Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders associated with skin, ligament, blood vessel and organ abnormalities. Skin hyperextensibility, joint hypermobility and widened atrophic scars are characteristic of classical EDS. Vascular complications, though rare in classical EDS, can be life-threatening, and this necessitates one to look for vascular associations in non-vascular, such as classical, forms of EDS due to the heterogeneity of the syndrome.
View Article and Find Full Text PDFJMIR Hum Factors
December 2024
Center for Bioethics, Indiana University School of Medicine, Indianapolis, IN, United States.
Background: The rarity that is inherent in rare disease (RD) often means that patients and parents of children with RDs feel uniquely isolated and therefore are unprepared or unsupported in their care. To overcome this isolation, many within the RD community turn to the internet, and social media groups in particular, to gather useful information about their RDs. While previous research has shown that social media support groups are helpful for those affected by RDs, it is unclear what these groups are particularly useful or helpful for patients and parents of children with RDs.
View Article and Find Full Text PDFSkinmed
January 2025
Department of Dermatology, Mater Dei Hospital, Msida, Malta.
A 39-year-old woman presented to the dermatology department in January 2022 with a 3-week history of a progressively enlarging and intensely pruritic erythematous annular nodule on her left hand. The lesion started as a small blister, which was initially presumed to be a flare up of her pompholyx dermatitis. On her physician's advice, she applied clobetasol propionate ointment twice daily for 5 days; however the blister continued to increase in size until it burst, revealing raw inflamed skin.
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