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Ehlers Danlos Syndrome Pictures

What is Ehlers Danlos Syndrome

Ehlers Danlos syndrome is a group of inherited abnormalities of the connective tissues and is characterized by easy bruising, hyper elasticity or laxity of the skin, extremely loose joints or hyper mobility of joints and tissue weakness.

Symptoms of Ehlers Danlos syndrome

There are several types of Ehlers-Danlos syndrome and each type has some peculiar symptoms associated with it. The types and symptoms of Ehlers-Danlos syndrome are listed below:

Classical type EDS (formerly types I & II) –

Skin fragility and skin that tears or bruises easily
Extremely loose joints
Superfluous folds on the skin, such as eyelid folds
Widespread scarring of the skin due to poor and slow healing process.
Problems in the heart valve
Pressure areas like the knees and elbows may have fibrous growth that are non cancerous.
The forearms and shins may have fatty growths.
Velvety and hyper elastic skin.
Pain, weakness and fatigue in the muscles

Hypermobility type EDS (formerly type III) –

The joints are unstable and extremely loose that may result in several dislocations.
Skin that bruises easily
Problems in the heart valve like aortic root dilation, etc.
Presence of joint diseases that are degenerative, progressive and chronic
Pain and fatigue in the muscles
Advanced and early onset of osteoarthritis along with chronic pain

Vascular type EDS (formerly type IV) –

The skin is translucent and fibrous-thin which easily bruises
The organs and the blood vessels are delicate and fragile leading to easy rupture or tearing.
The lungs are usually collapsed.
Prominent and characteristic facial features that includes bulging eyes, sunken cheeks, thin lips and nose and a small chin
Problems of the heart valve like mitral valve prolapsed, etc.

There are other types of Ehlers-Danlos syndrome as well, but are and ill-defined and tend to occur only in a few families.

Ehlers Danlos syndrome Causes

Mutations of the genes that control the production of the collagen protein causes Ehlers-Danlos syndrome. Collagen is essential for the effective functioning of the connective tissues.
Mutations of the genes that control the production of the tenascin protein causes Ehlers-Danlos syndrome.
Ehlers-Danlos syndrome has an autosomal dominant pattern of inheritance and hence can be passed from the parents to the child.

Ehlers-Danlos syndrome Treatment

Ehlers Danlos syndrome has no cure, but the symptoms can be managed in the following ways:

Physical therapy for strengthening muscles and reduction of muscle pain and fatigue.
Braces to stabilize joints.
Medications like nonsteroidal anti-inflammatory drugs to alleviate pain.
In very rare cases, surgery may be required to treat joint dislocations. But due to the slow recovery process in Ehlers-Danlos syndrome patients, this is usually the last option.