Ehlers–Danlos syndrome: case report and an electron microscopy study

Abstract

Ehlers-Danlos syndrome (EDS) type III is a inherited connective tissue disorders characterized by extensibility of the skin, hypermobility of the joints, chronic pain, tissue fragility, easy bruising, and delayed wound healing with result of atrophic scars. The patients report commonly a history of recurrent dislocations of the shoulders and knees after low-impact trauma, chronic joint pain, and early osteoarthritis, which lead to diagnosis. The pathogenesis of this condition is unknown, and the diagnosis is generally made in adult age, based only on clinical criteria. In this report, we describe a case of a 50-year-old woman with a 30-year history of recurrent dislocations and atrophic scars. We performed diagnosis of EDS type III after a complete clinical and instrumental evaluation, comprising of histological and electron microscopic studies, that highlighted collagen abnormalities.

Extensive cerebral calcification and pulmonary bullae in a patient with Ehlers-Danols syndrome

“…EDS is a heterogeneous group of inherited disorders of connective tissue (2)(3)(4)(5)(6). The molecular causes of this disorder are related to collagens and enzymes that process these proteins.…”

“…Recent knowledge and increased medical expertise consented a simplification of EDS classification. It has been revised into 6 major types according to the Villefranche nosology: more frequent are EDS types I and II that show the cardinal manifestations to a severe and moderate degree, respectively; EDS type III, hypermobility type (3,4,8). The diagnosis of classic type of EDS is established by clinical examination and family history (2,14).…”

“…Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders that are characterized by the triad of skin hyperextensibility, joint hypermobility and tissue fragility (1)(2)(3)(4)(5)(6). It has variable clinical, genetic, and biochemical features and more than 10 subtypes are previously recognized (1,5,7).…”

“…Etiopathogenesis of EDS is still unclear; molecular defects affecting the synthesis, structure or function of the fibrillar collagens types I, III, and V have been described in EDS (4,10). The diagnosis is based on clinical features; in fact, there are no pathognomonic laboratory tests and no specific pathologic features in most types (4).…”

“…Etiopathogenesis of EDS is still unclear; molecular defects affecting the synthesis, structure or function of the fibrillar collagens types I, III, and V have been described in EDS (4,10). The diagnosis is based on clinical features; in fact, there are no pathognomonic laboratory tests and no specific pathologic features in most types (4). The diagnosis is full fit by the presence of one of three major criteria (skin hyperextensibility, tissue fragility, and joint hypermobility), while the presence of one or more minor criteria (smooth, velvety skin, subcutaneous spheroids, recurrent joint dislocations or subluxations, chronic limb or joint pain, positive family history of EDS, muscle hypotonia, easy bruising, functional bowel disorders, [functional gastritis and/or irritable bowel syndrome], high, narrow palate, dental crowding, and neurally-mediated hypotension or postural orthostatic tachycardia) is necessary to distinguish a specific type of EDS (4,11,12).…”