EhlersDanlos syndrome (EDS) is a diverse
group of , 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 EhlersDanlos
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 velvetlike 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
- 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);
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 and .
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
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
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:
Additional links and support groups are posted at the following locations:
(def;articles & more)