A condition characterized by hyperelasticity of the skin, hyperextensibility of joints, and soft-tissue calcifications (spheroids), and is due to a set of genetic disorders affecting the connective tissues
Ehlers-Danlos syndrome (EDS) is a condition caused by a set of genetic disorders affecting the appropriate production of type III collagen. Possible mutations in these genes have been associated with this condition: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, and TNXB genes. Genetic mutations involving these genes may end up in a defective structure or production of collagen, or in a dysfunctional protein interacting with collagen. Defective collagen may weaken the connective tissues in the body. The inheritance pattern is autosomal dominant or X-linked.
EDS is characterized by hyperelasticity of skin, poor wound healing, hyperextensibility of joints, soft-tissue calcifications (spheroids), and vascular lesions: aortic dissection, aneurysms. Rare symptoms include tortuous arch, ectatic pulmonary artery, tissue fragility most likely to be haematomas, aortic rupture after angiography.
The different clinical types of EDS are as follows: hypermobile EDS, classical EDS, vascular EDS, kyphoscoliosis EDS, arthrochalasia EDS, dermatosparaxis EDS, classical-like EDS, spondylodysplastic EDS, musculocontractural EDS, myopathic EDS, periodontal EDS, and cardiac-valvular EDS.
The name of this condition is based on the two physicians, Edvard Ehlers and Henri-Alexandre Danlos, who identified the syndrome at the turn of the 20th century.