Abstract
Clinical and genetic aspects in the Ehlers Danlos syndrome
Highlights
Ehlers Danlos syndrome is a group of hereditary diseases of the connective tissue with a combined prevalence of 1 in 5,000 cases which have in common articular hyperlaxity and skin abnormalities
According to the classification made by Beighton and his collaborators in 1998 [3], Ehlers Danlos syndrome was divided into six major types which have in common joint hyperlaxity and skin abnormalities, frequent dilatation of the aorta and rarely, rupture of the aorta [1]
The classic type of Ehlers Danlos syndrome is mainly caused by autosomal dominant mutations in the COL5A1 and COL5A2 genes, and, in rarer cases, COL1A1 [19,20], and has as main diagnostic criteria generalized joined hypermobility and skin hyperextensibility with atrophic scars [19], among the minor criteria being velvety skin, tissue fragility and extensibility which can lead to complications such as anal prolapse, hiatal hernia, cervical incompetency, the presence of subcutaneous spheroids, molluscoid pseudotumours, predisposition to bruises, muscle hypotonia, delay in obtaining the motor acquisitions as well as complications of the joint hyperextensibility such as shoulder, hip, patella, clavicle or radius dislocations [20,21]
Summary
Ehlers Danlos syndrome is a group of hereditary diseases of the connective tissue with a combined prevalence of 1 in 5,000 cases which have in common articular hyperlaxity and skin abnormalities.
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