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reference materials

Genetics of Ehlers-Danlos Syndrome

key information

source: Medscape

year: 2015

authors: Germaine L Defendi

summary/abstract:

Ehlers-Danlos syndrome (EDS) comprises a group of inherited heterogeneous disorders that share a common decrease in the tensile strength and integrity of the skin, joints, and other connective tissues. This group of connective-tissue disorders is characterized by abnormal collagen synthesis causing hyperextensibility of the skin, hypermobility of the joints, and tissue fragility, as is seen by easy bruising and delayed wound healing with atrophic scarring.

Some patients with EDS can demonstrate amazing, almost unnatural, contortions, often arousing the curiosity of onlookers. The famous Italian violinist, Paganini (1782-1840), capable of miraculous feats in his playing owing to his hypermobile and loose joints, had phenotypic traits of EDS. In the late 19th century, historians described performers with EDS who displayed their hyperextensible maneuvers publically in circuses and travelling shows. Some achieved celebrity status, acquiring titles such as “The India Rubber Man,” “The Elastic Lady,” and “The Human Pretzel.”

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