BACKGROUND Ehlers-Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). Affected patients are at risk for arterial, bowel, and uterine rupture, but the timing of these events, their frequency, and the course of the disease are not well documented. METHODS We reviewed the clinical and family histories of and medical and surgical compl...

Referrals are invited from consultants in secondary and/or tertiary care for patients in whom the diagnosis of EDS is suspected but not confirmed for one of the following reasons: > Diagnostic criteria according to Villefranche classification are not met > Diagnostic testing does not confirm the diagnosis suspected > Diagnostic criteria of more than one type of EDS are identified > There are si...

Ehelr Danlos Syndrome is characterized in its most common form by hyperextensibility of the skin, hypermobility of joints often resulting in dislocations, and tissue fragility exemplified by easy bruising, atrophic scars following superficial injury, and premature rupture of membranes during pregnancy. Heterogeneity between the several clinical syndromes both complicates the diagnosis of EDS an...

Peroneal artery arteriovenous fistulas and pseudoaneurysms are extremely rare with the majority of reported cases due to penetrating, orthopedic, or iatrogenic trauma. Failure to diagnose this unusual vascular pathology may lead to massive hemorrhage or limb threatening ischemia. We report an interesting case of a 14-year-old male who presented with acute musculoskeletal pain of his lower extre...

Ehlers-Danlos is a hereditary disease of the whole connective tissue initially described by dermatologists (Tscherchnogobov Moscow 1892, Ehlers, Copenhagen, 1900, Danlos, Paris, 1908). They emphasized joint hyperlaxity and stretchiness skin which has long summed up clinical expression this entity. In recent decades, many other manifestations have been gradually identified, mainly rheumatologist...

The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.