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We present a case of early onset osteoarthritis in a patient with Ehlers-Danlos syndrome (EDS) and a history of developmental dysplasia of the hip. Ehlers-Danlos syndrome (EDS) is part of a wide spectrum of connective tissue disorders characterized by hyperextensible skin, hypermobile joints, and tissue fragility. Presentation varies from mild hyperextensibility of the skin and joints to debilitating physical disabilities and vascular complications because of genetic defects in type one and three collagen synthesis. Collagen is the most abundant protein in nearly all parts of the body and errors in the production of this protein have widespread effects. Therefore, we suggest a multidisciplinary approach to the management of patients with EDS, with an emphasis on patient education, to aid in the prevention and early detection of complications.
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http://dx.doi.org/10.7759/cureus.27069 | DOI Listing |
Curr Opin Pediatr
October 2025
Division of Pediatric Gastroenterology, Hepatology and Nutrition, Stanford University School of Medicine and Stanford Children's Health, Palo Alto, California, USA.
Purpose Of Review: Median arcuate ligament syndrome (MALS) is understood to be a condition where compression of the celiac artery by the median arcuate ligament (MAL) may lead to symptoms of postprandial or exercise-induced abdominal pain, nausea, vomiting, diarrhea, oral aversion, and weight loss. This review summarizes recent literature on pediatric MALS while highlighting the challenges, comorbidities, and controversies encountered in this condition.
Recent Findings: The pathophysiologic mechanism by which MALS leads to pain is currently unknown.
Pain Med Case Rep
August 2025
Department of Physical Medicine and Rehabilitation, University of Pittsburgh Medical Center, Pittsburgh, PA.
Background: Patients with connective tissue disorders (CTDs), such as Ehlers-Danlos syndrome, can present unique challenges in the management of spinal pathology and procedural complications due to underlying tissue fragility and susceptibility to dural ruptures. Thus, there is a need for less invasive diagnostic and therapeutic care in this population.
Case Report: We present a case of a 48-year-old woman with joint hypermobility who developed acute-on-chronic back pain and radicular symptoms.
Mol Syndromol
March 2025
Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester Foundation NHS Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.
Introduction: Gorlin syndrome (GS) is a rare autosomal dominant condition that predisposes to cutaneous basal cell carcinomas, jaw keratocysts, and skeletal anomalies. Most patients with GS have a heterozygous pathogenic variant in the gene, although a minor subset have a pathogenic variant in the gene.
Case Presentation: We report a 34-year-old woman meeting clinical diagnostic criteria for GS and with an affected father who also meets diagnostic criteria.
Genes (Basel)
July 2025
Department of Medical Genetics, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.
Diagnosing hypermobility disorders and Ehlers-Danlos syndrome (EDS) in children is challenging due to overlapping features with generalized joint hypermobility (GJH) and the lack of biomarkers. : This study aims to describe the clinical and genetic features of pediatric EDS patients and identify key comorbidities and correlations. : This is a single-center observational study of patients under 18 diagnosed with suspicion of EDS (2018-2024) at a tertiary pediatric hospital.
View Article and Find Full Text PDFJ Clin Med
August 2025
Department of Regenerative Medicine and Cell Biology, Medical University of South Carolina, Charleston, SC 29407, USA.
Hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSDs) are prevalent, complex conditions marked by chronic pain, joint instability, and multisystem involvement. Despite affecting an estimated 1 in 500 individuals, these conditions remain poorly understood and inconsistently diagnosed. This study aimed to define their clinical burden through a large-scale, international survey.
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