The Skin in Ehlers-Danlos Syndrome

I. Features

A. Appearance
The skin is involved in essentially all patients with Ehlers-Danlos Syndrome. That is not surprising since we have recently learned that collagen, the major structural substance found in skin is abnormal in some forms of Ehlers-Danlos Syndrome and suspect that it will be found to be abnormal in other forms. Although we now recognize more than ten types of Ehlers-Danlos Syndromes, many patients do not easily fit into recognized categories. Nonetheless, most manifestations of the disease, including skin involvement, tend to be somewhat similar among affected members of a family. If the manifestations of the disease are mild in one member of a family, they ordinarily are mild in other affected members.

The most common type of skin involvement in Ehlers-Danlos Syndrome is very soft skin. This has been called "skin you love to touch". In many cases, this skin would not be perceived as being unusual and would only be noticed by an experienced physician. The texture of the skin often feels velvety, much like a chamois skin. Frequently the feeling is more doughy, which may be related to the abnormal underlying connective tissue structure. The skin is uniformly thin and this feature, as well as abnormal connective tissue structure can be appreciated when the skin is examined under the microscope. Frequently this thinness results in a pale complexion through which underlying blood vessels are easily seen. In Many patients with Ehlers-Danlos Syndrome, the skin is easily stretched, and in some cases, may almost be like a rubber suit. In contrast, skin on the palms and soles and sometimes over the tops of the hand and feet is often loose fitting and wrinkly. Although the skin is ordinarily tight-fitting during childhood and early adult life, it frequently begins to sag during middle life so that premature wrinkling is seen in older patients with Ehlers-Danlos Syndrome. Wrinkly skin may also be present in the newborn and such patient may be misdiagnosed as having cutis laxa, another inherited disorder of connective tissue with similar, but different, features than Ehlers-Danlos Syndrome.

B. Fragility and Wound Healing
In some patients the skin can be extremely fragile and splits easily with minimal injury. This is especially true in young children and from some patients, it can be a continual problem and cosmetic nightmare. To compound the problem, would healing is often abnormal, resulting in widened, thinned, disfiguring scars. Would healing is delayed so that occasionally weeks and even months are needed for appropriate scar tissue to form. The resultant scars are often quite thin and of poor quality. In some cases the skin is so fragile that it is difficult to properly close the wound with stitches to achieve an optimal cosmetic result. The stretchy nature of skin and poor underlying connective tissue sometimes causes lacerations to appear larger and more serious than one would expect. Because the skin is easily stretched, under these circumstances, the wound edges can ordinarily be brought together for appropriate closure.

Occasionally, trauma may result in breaks in the connective tissue of the skin so that the underlying fat herniates and later develops calcium deposits. This results in pea to grape-sized bumps ordinarily over the elbows and knees which are sometimes called "pseudotumors". In addition, patients with Ehlers-Danlos Syndrome may have small, hard calcified lumps under the skin which probably are related to injury and subsequent repair. These processes are in no way dangerous, and are not related to cancer.

C. Bruising
Patients with Ehlers-Danlos Syndrome usually bruise easily. Sometimes the resulting bruise is quite extensive, but ordinarily, clotting of the blood is normal. The bruising results from a problem in the structure of the underlying connective tissue so that it is difficult for blood vessels to close themselves after they are damaged. Moreover, they are more easily damaged because the connective tissues holding them together is abnormal. In a sense, it is like poking pin-sized hole in a rubber sheet. Before long, the hole becomes much larger than pin-sized. In a simple sense, this is what happens to the blood vessels when they are injured.

D. Varicose Veins
Since connective tissue in the entire body is involved as well as the skin, this may lead to other manifestations. Varicose veins, particularly on the lower extremity are common in Ehlers-Danlos Syndrome. In some forms of Ehlers-Danlos Syndrome, this can be extreme.

II. Management

A. Ascorbic Acid (Vitamin C)
I recommend to my patients with Ehlers-Danlos Syndrome that they take 2 to 4 grams of ascorbic acid daily. Children, of course, are given appropriately lower doses. This medication should be taken with a full glass of water or other fluid. Ascorbic acid is ordinarily safe, although it is metabolized by the body to oxalic acid. This compound may be found as a part of some kidney stones. For this reason, it is important to make sure that the patient not have previous kidney stones or a history of kidney stones in the family. Under these circumstances, the advice of a physician is imperative. Doses larger than those recommended are not appropriate and will not be of additional value. All ascorbic acid, regardless of source, is the same and comparison shopping is encouraged. We find that ascorbic acid is a big help with the bruising and in many cases, has improved wound healing and muscular strength. Recently, we have learned in the laboratory, that Vitamin C instructs the body to make collagen.

B. Wound Repair
In those families afflicted with poor wound healing, one of the most disappointing results is the cosmetic disfigurement that may result. This ordinarily occurs in the first three or four years of life and is a result of the thin, fragile skin and poor wound healing. Injury is especially risky as the child attempts to learn how to walk on loose, unstable joints. During this period, extra care is necessary to prevent falls. Furniture needs to be appropriately padded or avoided, and any obstacles such as loose carpets need to be removed. An ounce of prevention is extremely important here. When lacerations occur, appropriate care is important. Such families should enlist the services of a Plastic Surgeon who knows about this disorder so that optimal results can be anticipated. Because of fragility of the skin and underlying connective tissue, it is often necessary to utilize special closure techniques to achieve good results. This includes taping as well as suturing. In some cases, joints need to be partially immobilized to maximize the results. Control of superinfection of wounds is critical for optimum healing. Regular application of mupiricin ointment is recommended during healing.

C. Prevention of Wrinkles
Because the skin is already thin in Ehlers-Danlos Syndrome, premature aging of the skin is an added risk. Since the sun markedly accelerates this process, it is prudent to protect exposed skin from the sun. Sunscreen should be used daily, but especially when sun exposure is contemplated. Several high quality sunscreens are available on the market, and patients should consider one rated SPF-15 from the many available. Sunscreens can be obtained in cream, lotion or clear gel formulations. In addition, some formulations are water resistant. Since patient acceptance usually dictates choice, the best approach is to try several of the products and judge for yourself. Elizabeth Arden, Clinique, PreSun, Sun Block, Sundown, Eclipse and Piz Buin are a few products to choose from. A wide-brimmed hat is a simple and effective measure. Care should especially be taken with infants and children to protect them when they are in the sun.

D. Prevention of Bleeding
Since easy bruising is common in Ehlers-Danlos Syndrome, medications which affect clotting are contraindicated. Acetaminophen is recommended for pain instead of aspirin or non-steroidal anti-inflammatory agents such as Ibuprofen. Heparin and cormadin derivatives are particularly risky.

E. Treatment of Varicosities
Support hosiery such as Sig Varis or Medistrumpf is recommended at all times to prevent worsening of varicosities related to Ehlers-Danlos Syndrome.

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