Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders, caused by various defects in the synthesis of collagen. EDS is known to affect men and women of all racial and ethnic backgrounds.
There are six distinct types of EDS currently identified. All share joint laxity, soft skin, easy bruising, and some systemic manifestations. Each type is thought to involve a unique defect in connective tissue, although not all of the genes responsible for causing EDS have been found.
These six types are defined according to the signs and symptoms that are manifested, in a set of major and minor diagnostic criteria for each type. Each type of EDS is a distinct disorder that “runs true” in a family. This means that an individual with Vascular Type EDS will not normally have a child with Classical Type EDS. There a number of mutations identified as Ehlers-Danlos syndromes since the 1997 diagnostic criteria; these lie outside the classifications and can be located through the OMIM/Online Mendelian Inheritance in Man® database from Johns Hopkins University.
The probable first description of EDS was by Hippocrates in 400 B.C. In 1657 a Dutch surgeon noted a case history of a boy with hyperextensible skin. The first association of hypermobile joints to skin was published in 1892 in Moscow by A.N. Chernogubov. Edvard Ehlers in 1901 defined it as a (still nameless) distinct disorder in a case history that included lax joints, hyperextensible skin and a tendency to bruise. In 1908, Henri-Alexandre Danlos published a second case history. In 1936, Frederick Parkes-Weber suggested the disorder be named Ehlers-Danlos syndrome.
The first classification of types of EDS originated in the late 1960s and was formalized in 1988; the Berlin nosology used a numbering for seven EDS types, some with lettered subtypes. Experience proved it to be too complicated, as the classification did not discriminate adequately between the types or between the Ehlers-Danlos syndromes and other related conditions. In 1997, the revised nosology was written at the Villefranche International Conference that redefined EDS into the current six named types.