Skin Disorders

Skin disorders cover a wide range of conditions, some benign, some very serious, and some even a sign of another underlying illness. A skin disorder not only affects your physical health, but also your emotional well-being.

Skin Care › Skin Disorders › Ehlers Danlos Syndrome

Ehlers Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a group of hereditary disorders that affects mainly the skin and joints, but other organs as well. EDS results in weakness and/or excessive flexibility of the connective tissues of the body. People with EDS are born without the ability to make certain components of the normal connective tissue of the body.

Causes of Ehlers-Danlos syndrome

Collagen is one of the main building blocks of the body. It is a protein that is widely found in all organs of the body. Several types of collagen exist, each with differing properties. Collagen can provide strength and firm support, be elastic to allow movement, or it can be used to bind things together.

A genetic defect causes reduced amounts of collagen, disorganisation of collagen that is usually organised into bundles, and alterations in the size and shape of collagen. The type of EDS a patient has depends on how collagen metabolism has been affected. For example vascular EDS is caused by decreased or absent synthesis of type III collagen.

Signs and symptoms of Ehlers-Danlos syndrome

The symptoms and findings associated with Ehlers-Danlos syndrome (EDS) may vary greatly in range and severity from case to case, depending upon the specific form of the disorder present and other factors. However, the primary findings associated with Ehlers-Danlos syndrome are:-

• Easily damaged, bruised, and stretchy skin
• Visual difficulties
• Skin problems, include fragile skin that bruises or tears; soft skin, and slow-healing wounds.
• Premature rupture of membranes at birth.
• Epicanthic folds: skin folds between the eyes make the bridge of the nose appear wide.
• Joint problems, including loose, unstable joints; "double-jointed" or overextension of the joints; arthritis-like problems
• Bruising and haematomas may arise after trivial injuries.

Types of Ehlers-Danlos syndrome

Up to 1967 the classification of the Ehlers-Danlos Syndrome only covered those symptoms dealing with fragile skin but by 1986 it had been divided into 11 distinct types covering a wide range of varying symptoms. Later in 1997 these were further simplified into six major types.

Classical Type :- Patients have hyperextensible (stretchy) skin that scars and bruises easily, some hypermobility of the joints, and smooth velvety skin. They can suffer from sprains, dislocations/subluxations of the joints, flat feet etc along with the risk of hernias and surgical complications.

Hypermobility type :- Excessively loose joints are the hallmark of this EDS type, formerly known as EDS type III. Both large joints, such as the elbows and knees, and small joints, such as toes and fingers, are affected. Partial and total joint dislocations are common, and particularly involve the jaw, knee, and shoulder. Many individuals experience chronic limb and joint pain , although x rays of these joints appear normal. The skin may also bruise easily. Osteoarthritis is a common occurrence in adults. EDS hypermobility type is inherited in an autosomal dominant manner.

Vascular Type :- Often thought to be the most serious type of EDS patients have thin transparent skin, the face may be slender with a pinched nose, prominent eyes and ears, there is easy bruising and they're susceptible to rupture of the arteries, intestines and uterus. The joints are often hypermobile, there can be rupture of the tendons and muscles, clubfoot, and varicose veins. The danger with this type is that there is a very high likelihood of early death in the third or fourth decade of life although patients have been known to survive into their fifties. In the family history there will often be sudden death in a close relative or sibling.

Kyphoscoliosis Type :- Fragile globe of the eyes, significant skin and joint laxity, and severe curvature of the spine (scoliosis) are typical features. Inherited as autosomal recessive (not seen in family members or only in one generation of members of the same family).

Arthrochalasia Type :- There is extreme general hypermobility of the joints with recurring subluxations. There can be congenital hip dislocation. The skin is hyperextensible; there is easy scarring because of tissue fragility, hypotonia of the muscles, and Kyphoscoliosis.

Dermatosparaxis :- Formerly known as EDS type 7C, is also very rare, with about 10 cases reported. This variant combines the loose and unstable joints with extremely fragile skin which loses elasticity.

Treatment for Ehlers-Danlos syndrome

There is no specific cure for Ehlers-Danlos syndrome, so individual problems and symptoms must be evaluated and cared for appropriately. Physiotherapy and occupational therapy advice can help. Psychological support is also important, particularly when skin damage results in visible scarring and disfigurement.

Alternative treatment

There are anecdotal reports that large daily doses 0.04-0.14 oz (1-4 g) of vitamin C may help decrease bruising and aid in wound healing. Constitutional homeopathic treatment may be helpful in maintaining optimal health in persons with a diagnosis of EDS. An individual with EDS should discuss these types of therapies with their doctor before beginning them on their own. Therapy that does not require medical consultation involves protecting the skin with sunscreen and avoiding activities that place stress on the joints.