Ehlers-Danlos syndrome is also known as tenascin X-Deficiency syndrome, Lysyl Hydroxylase Deficiency syndrome, Cutis Hyperelastica, Dystrophia Mesodermalis and Fibrodysplasia Elastic Generalisatica. It is a hereditary collagen disease presenting primarily as dermatological and joint disorders. This disorder affects the connective tissues in the body and is characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. The disease is diagnosed by clinical findings of skin hyperextensibility, atrophic scars, and joint hypermobility. Genetic testing can be done to identify mutations in collagen type V alpha 1 chain (COL5A1) and collagen type V alpha 2 chain (COL5A2) genes. At least 15 phenotypes of the syndromes have been cataloged to date, with 2 having recently been reclassified. Type IV is characterized by a marked fragility of the vascular system. Aneurysms of the large and medium-sized arteries (axillary, femoral and carotid) are common. Joint hypermobility is usually limited to the small articulations of the hand, with acro-osteolysis of the distal phalanges. Mitral valve prolapse can also be present. Type VIII is the rarest form of Ehlers-Danlos syndrome and is characterized by severe early-onset periodontal disease in conjunction with the presence of plaques of scar tissue in the pretibial zones (hyperpigmented atrophic scars). Early loss of the primary and permanent teeth has been observed in this condition.
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