Complications and Management of Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders: A Literature Review.
Ehlers-Danlos syndrome (EDS) is a group of inherited disorders affecting collagen and extracellular matrix proteins, which can cause skin hyperelasticity, joint hypermobility, atrophic scarring, and blood vessel fragility. Complications include joint dislocation, chronic pain, fatigue, functional ga…
Cortical bone material / compositional changes in children with mild osteogenesis imperfecta.
Osteogenesis imperfecta (OI) is a heritable connective-tissue disorder characterized by skeletal fragility (amongst other manifestations) despite relatively preserved bone mineral density (BMD), suggesting that alterations in bone quality play a central role. Intrinsic matrix defects, including disr…
Genotype-associated structural and nanomechanical alterations of aortic fibrillin-1 microfibrils in Marfan syndrome.
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the gene encoding fibrillin-1 (FBN1), the main component of extracellular microfibrils. In the aortic wall, these microfibrils maintain structural integrity and sustain hemodynamic load. Pathogenic FBN1…
A rare case report of vascular Ehlers-Danlos syndrome as a pulsatile neck mass with an internal carotid artery aneurysm.
Vascular Ehlers-Danlos syndrome, also known as Ehlers-Danlos syndrome type IV, is a rare inherited connective tissue disorder caused by autosomal-dominant pathogenic variants in the COL3A1 gene. Defective type III collagen results in marked fragility of arteries and hollow organs, predisposing affec…
Cancer Risk in Marfan Syndrome: A Swedish Population-Based Cohort Study.
Marfan syndrome is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin-1-encoding gene. The cancer risk in Marfan syndrome is not fully understood, but recent reports have suggested an increased risk in adults. This study assessed cancer risk in Marfan syn…
Tissue vulnerability revealed by ultrastructural skin analysis as a surrogate for arterial integrity in two cases of vascular Ehlers-Danlos syndrome.
Clinical presentation and operative outcomes in vascular Ehlers-Danlos syndrome (VEDS) are heterogeneous. We present two patients with genetically confirmed VEDS who exhibited markedly different iliac pathology phenotypes. One ruptured a common iliac artery at a near-normal diameter and the other to…
Prevalence of unruptured intracranial aneurysms according to comorbidities, risk factors, country, and time period: a systematic review and meta-analysis.
The incidence of aneurysmal subarachnoid haemorrhage declined between 1980 and 2010, which coincided with a decline in smoking and prevalence of hypertension. We aimed to investigate whether the decrease in subarachnoid haemorrhage incidence is paralleled by declines in unruptured intracranial aneur…