What is Ehlers Danlos Syndrome?
Firstly described by doctors, Edvard Ehlers and Henri Danlos, the Ehlers–Danlos syndrome which is also known as Cutis hyperelastica, is a collection of more than ten distinctive hereditary disorders of the connective tissues caused by a genetic defect in collagen and connective tissue synthesis. In this syndrome, the joints become hypermobile, the cutaneous become fragile and hyperextensible. The extent of severity can range from mild to severe depending on the mutation, and affects about 1 in every 5000 population around the globe.
Normally, the collagens present in the connective tissues help the structures to defend against deformation. But with increased elasticity due to genetic alterations associated with the disruption of normal collagen production in type IV, the end result is Ehlers Danlos syndrome. The connective tissues such as the skin, tendon, cartilage, tendons and blood vessel walls become weak and wobbly, as mutation alters the normal enzyme activity of hydroxylase and lysyl oxidase in type V and VI.
The clinical symptoms vary from patient to patient and from type to another type, but the most frequently exhibited are stretchy, fragile skin and hyperflexible joints. The disorder is divided into several types. The classical type which includes type I and II has signs and symptoms such as wobbly joints, extremely elastic, velvety fragile skin that may bruise and rips easily, redundant skin folds, poor wound healing process, heart valve problems, muscle exhaustion and pain and benign rubbery growths on pressure areas. The second category is the hypermobility type which is known formerly as type III has signs and symptoms which include the same clinical manifestations in the classical type plus loose, unstable joints with many discolorations, chronic degenerative joint disease and advanced premature osteoarthritis with persistent pain. The third category is the vascular type which is formerly the type IV Ehlers–Danlos syndrome which is presented by fragile blood vessels and organ prone to rupture, thin, translucent skin that bruises easily, prominent eyes, thin nose and lips, sunken cheeks and small chin, pneumothorax and heart valve problems.
There are no obtainable cures for Ehlers–Danlos syndrome, yet symptoms can still be managed to prevent advance complications. To reinforce the muscles without causing any injury, a doctor may collaborate with a physical therapist to lead the special exercises. With this method, the joints will be stabilized and muscle fatigue and muscle pain will be reduced. Specific braces may also be recommended by the physical therapist. Nonsteroidal anti-inflammatory drugs and anesthetics are prescribed to patients who experience joint and muscle pain.
Pictures of Ehlers Danlos Syndrome
Photos, Images and Pictures of Ehlers Danlos Syndrome…