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Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of heritable disorders of connective tissue, characterized by skin extensibility, joint hypermobility and tissue fragility. There are six major types of EDS, classified according to their symptoms, with each type running true in a family (thus an individual with one type will not have a child with a different type). EDS occurs in approximately 1 in 5,000 of the population; both males and females of all races and ethnic backgrounds can be affected.

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 of collagen are firm to give support, others are elastic to allow movement and strength, whilst some resemble glue, which binds proteins together. Consequently, if it is defective, it can produce many problems.

Symptoms

Relating to the skin

	Hyper extensibility – Cutaneous hyper extensibility characterizes all EDS, except for the vascular type (type IV), which has noticeably translucent skin with visible veins. When the skin is over-stretched it retains normal elastic recoil and snaps back once released. This is best tested at the neck, elbows or knees.
	Cutaneous fragility – Easy splitting of the skin is particularly common in classical types (Types I and II). Gaping, ‘fish-mouth’ or ‘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 which develop over pressure points such as the elbows and knees.
	Varicose veins – These are more common in many types of EDS.

Relating to the joints

Hyper mobility of the joints – dislocation and subluxation (partial dislocation) – is common (due to unstable joints); as is chronic joint and limb pain.

Bruising and haematomas

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

Psychological

One of the main problems with having EDS, is that the person can look very fit, which can cause difficulties with diagnosis. A diagnosis is often delayed, and misdiagnosis is relatively common. For example, some forms of EDS may be misdiagnosed as child abuse or self-inflicted injury. Where there is severe skin involvement, scarring can be severe and the person needs to learn to cope with disfigurement.

Less common features

Arterial, uterine or intestinal rupture, due to tissue fragility; scoliosis (sideways curvature of the spine), which may be present at birth or can develop in later life; gum disease; gastrointestinal diverticulae (inflammations at weak points in the large intestine); mitral valve prolapse of the heart and, hernias.

Treatments

These depend on the presenting symptoms, but simple precautionary measures will greatly lessen the chances of accidental trauma, scarring and bruising. Simple measures like padding of the lower legs and elbows in children may reduce the number of injuries. Surgery and skin suture need to be undertaken with great care, as fragile tissues may tear. Bracing may be used to support unstable joints. Orthopedic surgery may be necessary, but is not always successful. Physiotherapy and occupational therapy advice may be sought to strengthen muscles and to provide information to aid daily living.

A prognosis depends on the specific type of EDS. Life expectancy can be shortened in the vascular type (type IV) due to the rupture of blood vessels and organs. Pregnancy can be life-threatening in the classical and vascular types (types I,II,IV).

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