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Ehlers-Danlos Syndrome – Pictures, Symptoms, Causes, Treatment

Updated on December 11, 2013

Ehlers-Danlos syndrome or EDS refers to a group of rare inherited conditions that adversely affect the connective tissues, specifically those occurring in joints, skin, and walls of the blood vessels.

The genetic errors associated with Ehlers-Danlos syndrome cause disturbances in manufacture of collagen which is a major constituent of connective tissues. Researchers have found many types of EDS with different signs and symptoms. However, all types of Ehlers-Danlos syndrome affect the joints, while a majority also affect the skin.

The main symptoms of Ehlers-Danlos syndrome include fragile and elastic skin, and loose joints that stretch beyond the normal range of motion. The presence of ‘double’ or extremely flexible joints can be normal and need not necessarily occur as part of Ehlers-Danlos syndrome.Mental functioning is not affected. However, EDS related complications can restrict physical activities.

Symptoms of Ehlers-Danlos syndrome

Stretchy and fragile skin as well as extra flexible and extensible joints are the most common symptoms of Ehlers-Danlos syndrome. The severity of associated signs and symptoms tends to differ widely.

As per the occurrence of certain symptoms,Ehlers-Danlos syndrome is classified into many types. The most common EDS types are listed below:

  • Classical type EDS: Formerly referred to as types I and II, this type of Ehlers-Danlos syndrome affects 1 in 10,000 to 20,000 individuals. It is identified by the below listed symptoms:
    • Very elastic and silky skin
    • Wobbly joints
    • Delicate skin that is prone to easy bruising and tearing
    • Poor and slow healing of wounds resulting in extensive scarring
    • Unwanted/unnecessary folds in skin, like on the eyelids
    • Fibrous benign growths on pressure regions like knees and elbows. The forearms and shins may elicit fatty growths
    • Problems of the heart valve such as aortic root dilation and mitral valve prolapse
    • Muscle pain and fatigue
    • Hypermobility type EDS: Formerly known as type III, this type of Ehlers-Danlos syndrome affects about 1 in 10,000 to 15,000 individuals and elicits the following symptoms:
      • Easy bruising
      • Unstable, loose joints with several dislocations
      • Muscle pain and exhaustion
      • Advanced premature osteoarthritis along with persistent pain
      • Chronic degenerative joint disease
      • Problems of the heart valve such as aortic root dilation and mitral valve prolapse
      • Vascular typeEDS:Formerly known as type IV, this type of Ehlers-Danlos syndrome is rare, but is also one of the most severe. It affects about 1 in 100,000 to 200, 000 individuals and results in the following signs and symptoms:
        • Translucent and thin skin that is prone to easy bruising
        • Delicate organs and blood vessels that tend to easily rupture or tear
        • Unique facial features comprising of thin lips and nose, bulging eyes, small chin, and sunken cheeks.
        • Problems of the heart valve like mitral valve prolapse, etc.
        • Pneumothorax or lung collapse
        • Other types of Ehlers-Danlos syndrome:Other forms of EDS are very rare. Some of them have been detected only in a few families. Also, the connection between a few of these EDS types and Ehlers-Danlos syndrome as a whole has not been properly defined.

Causes of Ehlers-Danlos syndrome

The different types of Ehlers-Danlos syndrome are caused due to different kinds of genetic mutations or changes that disturb the normal manufacture of collagen. Such genetic mutations are transferred from the parent to the child.It may be noted that collagen is a fibrous protein which provides elasticity and strength to connective tissues in different areas including the tendons, skin, cartilage, ligaments, and the walls of blood vessels and organs. The genetic alterations change the usual enzyme activity, thereby causing the connective tissues to become unstable and weak.

Different types of inheritance patterns: A majority of Ehlers-Danlos syndrome types follow an autosomal dominant pattern of inheritance. It means that a child only needs one copy of the mutated gene, passed on from either the mother or the father, to develop the varied symptoms of Ehlers-Danlos syndrome. Parents with the EDS mutation carry a fifty percent risk of passing it on to each of their children.

Treatment of Ehlers-Danlos syndrome

There is no known cure for Ehlers-Danlos syndrome. Treatment is aimed at managing the symptoms and preventing the development of health complications. Treatment options include:

  • Medications: Physicians may prescribe different drugs to alleviate muscle and joint pain, including topical anesthetics and nonsteroidal anti-inflammatory drugs.
  • Physical therapy: Patients may need to consult an occupational or physical therapist to engage in certain exercises for strengthening the muscles without causing any injuries. Most patients of Ehlers-Danlos syndrome benefit from these exercises as it decreases muscle pain and fatigue, and also stabilizes the joints. Additionally, doctors may also suggest the use of special braces to aid in joints’ stabilization.
  • Surgery: In rare instances, doctors may recommend surgery to correct joints damaged by recurrent dislocations. It may however be noted that people with Ehlers-Danlos syndrome experience difficult and slow healing from any kind of surgery. The surgeon may use medical glue or adhesive tape instead of suturing the surgical incisions. This is to prevent tearing of the fragile skin by the stitches.

People with Ehlers-Danlos syndrome need to protect their joints and skin and avoid injuries. The below listed self-care guidelines will be helpful.

  • Prevent injuries and falls at home by decreasing the clutter. Keep the doorways and walkways free from clutter. Prevent loose carpets and electric cords as they can increase the risk to tripping and tumbling.
  • Toddlers and infants with Ehlers-Danlos syndrome tend to fall down frequently and dislocate joints, particularly when learning to walk. Parents can use padding, guards, protective clothing, and/or other gear to safeguard their children from falls and tumbles.
  • Do not engage in weightlifting, contact sports, or other activities that can pose injury threats.
  • As the skin is prone to easy damage and bruising, Ehlers-Danlos syndrome patients may apply sunscreen when outdoors. Use of mild soaps is also recommended. These will also prevent premature aging of the skin.
  • Use jar openers, combs with long handles, wide-handled utensils, bath sponges, and other assistive devices which help reduce stress on the joints.


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