Ehlers Danlos syndrome (EDS) is a hereditary collagen disorder which primarily manifests in the skin and joints. Clinically, it is characterized by hyperelasticity of skin and joint hypermobility. This article has described a rare condition seen in a 10-year-old boy who was diagnosed with EDS, based on the clinical, radiographic and histological findings.
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http://dx.doi.org/10.7860/JCDR/2014/4569.4178 | DOI Listing |
SAGE Open Med
January 2025
Tufts University School of Medicine, Boston, MA, USA.
Objective: This study utilized a sample of trangender, nonbinary, and gender-diverse (TGD) patients to build on emerging literature that suggests that hypermobile Ehlers-Danlos syndrome may be overrepresented in TGD populations. The objective of this retrospective chart review was to determine the prevalence of hypermobile Ehlers-Danlos syndrome syndrome at a gender-affirming primary care clinic.
Methods: A retrospective chart review of medical records was conducted with records between May 2021 and June 2024.
Radiol Case Rep
March 2025
Radiology Department, University Hospital Center of Souss Massa, Faculty of Medicine and Pharmacy, Ibn Zohr Agadir University, Agadir, Morocco.
Fibromuscular Dysplasia (FMD) is a nonatherosclerotic, noninflammatory vascular disorder predominantly affecting women aged 18 to 65 years. This case report highlights a 74-year-old female diagnosed with FMD incidentally during evaluation for deep vein thrombosis (DVT). Imaging revealed significant vascular anomalies, including a giant intracranial carotid aneurysm and a hypoplastic iliac vein with extensive collateral formation.
View Article and Find Full Text PDFJ Transl Med
January 2025
Division of Adolescent and Young Adult Medicine, Departments of Pediatrics, Johns Hokins University School of Medicine, 200 N. Wolfe St., Room 2077, Baltimore, MD, 21287, USA.
Background: We have noted that some adolescents and young adults with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) report difficulty with arms-overhead activities, suggestive of brachial plexus dysfunction or thoracic outlet syndrome (TOS). In the TOS literature, diagnostic maneuvers focus on the provocation of upper limb symptoms (arm fatigue and heaviness, paresthesias, neck and upper back pain), but not on elicitation of systemic symptoms.
Objectives: To estimate the proportion of patients with fatiguing illness who experience local and systemic symptoms during a common maneuver used in evaluating TOS-the elevated arm stress test (EAST).
J Arthroplasty
January 2025
Department of Orthopedic Surgery, Hospital for Special Surgery, New York, NY, 10021; Weill Cornell Medicine, New York, NY, 10021. Electronic address:
Background: Patients who have Ehlers-Danlos Syndrome (EDS), a group of connective tissue disorders characterized by aberrant collagen synthesis and processing, have an increased likelihood of requiring a total joint arthroplasty (TJA), including total hip or knee arthroplasty (THA or TKA). This study aimed to synthesize outcomes following TJA in patients who have EDS.
Methods: This study was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.
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.
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