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EHLERS-DANLOS SYNDROME

Ehlers-Danlos Syndrome (EDS) is a group of heritable disorders of connective tissue, characterised by skin extensibility, joint hypermobility and tissue fragility. There are different types of EDS and these were re-classified in 1997 into six major types, classified according to their symptoms and signs with each type running true in a family. Thus an individual with one type will not have a child with a different type. EDS is known to affect both males and females of all races and ethnic backgrounds, with an estimated prevalence of 1 in 5000.

Causes
EDS is caused by a defect in the collagen (connective tissue), which is the main building block in the body. Collagen provides strength for the different parts of the body. Some types are firm to give support, others are elastic to allow movement and strength, and still others resemble glue which bind proteins together. Consequently, defects in collagen can produce many problems.

Symptoms
Diagnosis is based on the presenting symptoms and family history. Diagnosis can be delayed, or overlooked, in some cases as they do not fit conveniently into a specific type. A skin biopsy may be taken to study the connective tissue. Specific tests are available for certain types of EDS.

Relating to the skin
Hyperextensibility. Stretchy skin characterises all EDS except for the Vascular Type (type lV), which has noticeably translucent skin with visible veins. When the skin is over-stretched it still retains normal elastic recoil and snaps back once released. This is best tested at the neck, elbows or knees.


Fragility. Easy splitting of the skin is particularly common in Classical Type (Types l and ll). Gaping, ?reg;fish-mouth' or ?reg;cigarette paper' scars follow minimal trauma over sites of bony prominence and, areas prone to trauma such as the forehead, chin, elbows, knees and shins.


Epicanthic folds. These are additional symmetrical folds of skin at the inner aspects of the eyes producing apparent broadening of the nose.


Molluscoid pseudotumours. These are firm, fibrous lumps measuring up to 2-3 cm that develop over pressure points such as the elbows and knees.


Spheroids. Approximately one third of affected individuals describe small, firm nodules like ?reg;ball-bearings' just beneath the skin (subcutis). These consist of fibrotic and calcified fat, which overlays bony areas such as the shins.


Piezogenic papules. These small, soft, skin-coloured lumps appear on the side of the heel when standing and disappear when the foot is elevated. Although usually symptom-less they can occasionally be painful.
Varicose veins. These are more common in many types of EDS.

Relating to the joints
Hypermobility is assessed using the Beighton scale. A score of 5/9 or higher defines hypermobility.

Dislocation and partial dislocation; this is common due to unstable joints.

Chronic joint and limb pain. Pain is common even when skeletal X-rays are normal.

Bruising and haematomas
Easy bruising, at sites of trauma, accompanies most forms of EDS. This implies increased fragility of blood capillaries and poor structural integrity of the skin. When bruising presents in a child it may be incorrectly attributed to non-accidental injury.

Mitral valve prolapse
This is quite common and should be diagnosed by echocardiography, CT scan or magnetic resonance imaging (MRI).

Less common features
Arterial/uterine/intestinal rupture due to tissue fragility. Hernias are also relatively common.
Scoliosis (curvature of the spine) may be present at birth or can develop in later life. Gum disease.
Gastrointestinal diverticulae.

Psychological
The main problem with having Ehlers-Danlos syndrome is that the person can look very fit and may often not be believed that they have joint pain and other symptoms. Diagnosis is often delayed and misdiagnosis is relatively common. Some forms of EDS may be misdiagnosed as child abuse/self-inflicted injury. Where there is severe skin involvement, scarring can be severe and the person needs to learn to cope with disfigurement.

Treatment
This depends on the presenting symptoms but simple precautionary measures will greatly lessen the chances of accidental trauma, scarring and bruising. It is important to carefully balance the advantages of less frequent injuries and the disadvantages of over-protection in a child. Simple measures like padding of the lower legs and elbows in children may reduce the number of injuries.

Surgery and stitching of skin injuries should be undertaken with great care as fragile tissues may tear. Stitches need to be left in longer than normal. Bracing and splinting may be used to support unstable joints. Orthopaedic surgery may be necessary but is not always successful. Physiotherapy and occupational therapy advice may be sought in order to strengthen muscles and to aid daily living.

The prognosis depends on the specific type of EDS. Life expectancy can be shortened in the Vascular Type (type lV) due to the rupture of vessels and organs. Pregnancy can be life threatening in the Classical and Vascular Types (types l,ll,lV).

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