Ehlers-Danlos syndrome (EDS), a group of rare, autosomal dominantly inherited connective tissue dysplasias, characterized mainly by abnormal collagen synthesis, has been shown to exhibit extensive heterogeneity with at least 11 clinical entities differentiated by their clinical, biochemical, and genetic features. Of these, Type VIII EDS is of special interest from a dental viewpoint, due mainly...

Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised ...

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...

The object of this chapter was to provide an overview including relevant research progress some genetic disorders with periodontal manifestations. A number increase patient susceptibility disease, the latter exhibit rather rapid and aggressive presentations. Periodontal perhaps could be first detectable sign undiagnosed disorder. It is therefore important for dental practitioners familiar their...

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...

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 syndrome (EDS) is an inherited connective tissue disease due to impaired collagen metabolism. Joint hypermobility and skin hyper extensibility are the major findings. Six types of EDS are recognized. Type I or Gravis type is characterized by skin hyperextensibility, joint hypermobility, skin splitting autosoml dominancy inheritance, preterm premature rupture of membrane (PPROM) an...

The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders characterized by triad of joint hypermobility, skin extensibility, and tissue fragility. Ehlers-Danlos syndrome type IV places patients at risk for life-threatening, spontaneous, vascular or visceral rupture due to reduced or abnormal secretion of type III collagen. We present an adolescent male who was found to have a...

A spontaneous coronary artery dissection as the sole presenting feature of vascular Ehlers-Danlos syndrome is an uncommon finding. We present a 33-year-old woman with sudden onset chest pain caused by dissection. Genetic testing revealed underlying cause. Specifically, we show value genetic testing, which in some patients may be only way establishing diagnosis.

Ehlers-Danlos syndrome is a rare hereditary disease of the connective tissue which can present oral manifestations. A brief history of the disease is presented along with the epidemiology and characteristics of the 8 main phenotypes of the syndrome. The article also describes the case of a 12-year-old patient presenting with hypermobility of the temporo-mandibular joint and capillary fragility,...