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Ehlers-Danlos Syndrome

Description

Ehlers–Danlos syndrome (EDS) is a diverse group of hereditary connective tissue disorders , characterised by articular (joint) hypermobility, skin extensibility and tissue fragility.
There are six major, distinct types of EDS, each classified according to the signs and symptoms observed (for more details on the types of Ehlers–Danlos syndrome, go to the source for this information [ 1 ] ). Typically only one type of EDS will run through a family. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein which acts as a "glue" in the body, adding strength and elasticity to connective tissue.
Prevalence is estimated as 1 in 5,000 to 1 in 10,000. It is known to affect both males and females of all racial and ethnic backgrounds.

Symptoms and Signs

Clinical manifestations of EDS are most often skin and joint related and may include:

  • Skin . Soft velvet–like skin; variable skin hyperextensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of fleshy lesions associated with scars over pressure areas ( molluscoid pseudotumours ).
  • Joints . Joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint's normal range); early onset of osteoarthritis.
  • Other. Chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type); Scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type); mitral valve prolapse; and gum disease.

The two known inheritance patterns for EDS include autosomal dominant and autosomal recessive .

Diagnosis and Treatment

Diagnosis of EDS is based upon clinical findings and upon the family history, as it tends to run in families. Since many patients do not fit neatly into one of the specific types of EDS, a diagnosis is often delayed or overlooked. Specific diagnostic tests are available for some types of EDS in which there is a known biochemical defect. Sometimes, a physician may perform a skin biopsy to study the chemical makeup of the connective tissue.
In general, medical intervention is limited to symptomatic therapy. The gaping skin wounds, which are common in several types of EDS, should be approached with care. Proper repair of these wounds is necessary to prevent cosmetic disfigurement. Surgical procedures can be risky, as fragile tissues can unexpectedly tear. Suturing may present problems for the same reason. Excessive sun exposure should be avoided by the daily use of sunscreen. One should avoid activities that cause the joint to lock or overextend.
A physician may prescribe bracing to stabilise joints, while surgical repair of joints may be necessary at some time. A physical and/or occupational therapist may also be recommended in order to help strengthen muscles and to teach people how to properly use and preserve their joints. Vitamin C seems to help decrease bruising and improve wound healing in certain patients. In general, medical intervention is limited to symptomatic therapy. Prior to pregnancy, patients with EDS should have genetic counselling.

The information in this page is presented in summarised form and has been taken from the following source(s):
1. The Ehlers-Danlos Syndrome Foundation: http://www.ednf.org/

Other sources:
EDS Today - the newsletter for, by, and about people with EDS
http://www.edstoday.org/

Canadian Ehlers Danlos Association (CEDA)
http://www.ceda.ca/

UK EDS Support Group
http://www.ehlers-danlos.org/

Additional links and support groups are posted at the following locations:
Support Groups: http://www.edstoday.org/
Links: http://www.edstoday.org/


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  http://www.hon.ch/Dossier/MotherChild/child_musculoskeletal/muscoskel_ehlersdanlos.html Last modified: Oct 20 2004