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Ehlers Danlos is an inherited disorder that compromises skin, joints, and connective tissues. The cause Ehlers Danlos Syndrome is a variety of genetic mutations that result in malformed collagen within the body. There are six major types and at least five minor types of Ehlers Danlos syndrome There is no cure for Ehlers Danlos syndrome. Instead symptoms are treated individually. People with Ehlers Danlos generally have normal life expectancy. Ehlers Danlos effects both men and women and people of all races. Individuals who have vascular Ehlers Danlos syndrome have a significantly increased risk of rupture of a major organ or blood vessel. Common symptoms include extremely elastic skin and very flexible joints.
Diagnosis of Ehlers Danlos can include collagen typing and collagen gene mutation testing.
Ehlers Danlos syndrome can be prevented through genetic counseling for prospective parents.
Classical(types I and II)-Marked by skin hyperextensibility and joint hypermobility. Skin is very smooth, soft and fragile. Hypermobility(type III)-The dominant manifestation is this category is joint hypermobility specifically in elbows, knees, fingers and toes. Vascular(type IV)-Skin is thin and translucent especially over chest and abdomen. Arterial, intestinal or uterine fragility is a common cause of rupture and arterial rupture is the most common form of sudden death. X-Linked(type V)-This has only been found in one family and is extremely rare Kyphoscoliosis(type VI)-Joint laxity and general lack of muscle tone is present at birth. This type can lead to delayed gross-motor development and progressive scoliosis is present at birth Arthrochalasia(type VII a&b)-Extreme hypermobility in the hip joints is present in this type. Recurrent dislocation is common in this type as is fragile skin prone to damage and bruising.
Dermatosparaxis(type VIIc)-Severe skin fragility and substantial bruising. The skin is soft, doughy and sagging. How Is Ehlers Danlos Syndrome Treated? There is no cure. Rather that treating the syndrome as a whole, instead specific symptoms are treated. Physical therapy is often used to strengthen muscles and reduce joint pain and dislocation. Pain management is another issue addressed often in EDS