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EhlersDanlos Syndrome

Ehlers-Danlos sydrome (EDS) is a rare inherited group of connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen is a tough fibrous protein that plays an essential role in binding, holding together, strengthening, and providing elasticity to bodily cells and tissues. There are six major types of EDS that I will discuss, however I will only go into detailed discussion on two of the six types of EDS. The two major types of EDS are Classical EDS and Hypermobile EDS. These two types make up 90% of all EDS cases. I will discuss the general symptoms of these two types along with pathology, then diagnostic factors, and the different treatments for this disorder (Smith).EDS can vary in severity and are transmitted as autosomal recessive, autosomal dominant, or X-linked recessive traits. The primary characteristics are hyperextensible skin and joints (Dia. 1-2, pg.6), tendency to bruise easily (Dia. 3, pg.6), reduced wound healing capability, pseudotumors, and ocular defects. Differences within the six types may reflect inter/intra familial variability or genetic heterogeneity. Each type of EDS is classified symptoms and signs that are resulted (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L).There are approximately six types of EDS that have been distinguished but other types exist that are very uncommon. Classical, Hypermobile, Vascular, Kyphoscoliosis, Arthrochalasia, and Dermatosparaxis. Classical and Hypermobile make up over 90% of all reported cases of EDS. With the Classical type of EDS a person would have hyperextensible (stretchy) skin with widened atrophic scars and joint hypermobility. The skin is smooth and velvety with tissue fragility and easy brusability. Also evident are molluscoid pseudotumors (fleshy lesions associated with scars) frequently found over pressure points (e.g. elbows) and subcutaneous spheroids, which are commonly mobile and palpable on the forea...

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