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Ehlers-Danlos Syndrome

Symptoms due to collagen disorder


Updated May 25, 2006

In the 1800s traveling "freak shows" and circuses were popular in many countries. Among the human oddities on display was often someone dubbed "The India Rubber Man," or if female, "The Elastic Lady." These contortionists were able to bend their bodies into unnatural positions, much to the amazement of spectators.

Today we know that many of these people had Ehlers-Danlos syndrome (EDS), a connective tissue disorder, and that entertaining others by performing joint contortions injured the joints and worsened their condition.

Ehlers-Danlos syndrome
Ehlers-Danlos syndrome occurs in both men and women of all ethnic backgrounds. This inherited disorder is caused by abnormalities in the production of collagen, a connective tissue found throughout the body. Ehlers-Danlos syndrome leads to defects in the inherent strength, elasticity, integrity, and healing properties of tissues.

Ehlers-Danlos syndrome is a group of disorders, including six major types classified according to their specific symptoms. Typical symptoms of EDS include:

  • skin can be pulled away from the body as if elastic (skin extensibility)
  • skin is fragile and tears easily (tissue fragility)
  • joints can move beyond the normal range and easily dislocate (joint hypermobility)
Which specific additional symptoms an individual with EDS has, such as joint pain, skin scarring, hernias, or easy bruising, depends on which type of EDS is present.

Similar disorders
In some types of the syndrome, diagnosis can be made by a special test. In most cases, though, the syndrome is diagnosed based on the physical symptoms and family medical history.

However, there are several disorders that have some of the characteristics of Ehlers-Danlos syndrome. For example, in cutis laxa the skin is loose, hanging, and wrinkled. In cutis hyperelastica, the skin can be pulled away from the body but it does not tear. In Marfan syndrome, the joints are very mobile. In the past, Menkes disease, a copper metabolism disorder, was thought to be a form of Ehlers-Danlos syndrome. Because of these similar disorders, a correct diagnosis is very important.

Although there is no cure, good medical care can provide a normal life span for most people with Ehlers-Danlos syndrome. Care focuses on:

  • Preventing trauma to the joints. People with Ehlers-Danlos should not perform contortions or do heavy or repetitive lifting. Exercise and physical therapy are important to promote joint stability and reduce dislocations.
  • Avoiding trauma to the skin and internal organs because of fragile skin and poor wound healing. This would include staying away from potentially traumatic recreational activities.
  • Practicing meticulous dental care to avoid gum and tooth problems.
  • Visiting the ophthalmologist regularly to be screened for eye problems.
  • Genetic counseling, if available, especially for people wanting to have children.

- Bradley Schaefer, G. (2002). Ehlers-Danlos syndrome. Accessed at http://www.emedicine.com/ped/topic654.htm
- Ehlers-Danlos National Foundation. What is EDS?

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