Epidermolysis Bullosa (EB) is a group of blistering skin conditions. In those with EB, the skin is so fragile that even minor rubbing may cause blistering. Often the person with EB may not be aware of rubbing or injuring the skin even though blisters develop.
In severe EB, blisters are not confined to the outer skin. They may develop inside the body, in such places as the linings of the mouth, esophagus, stomach, intestines, upper airway, bladder, and the genitals.
The skin has an outer layer called the epidermis and an underlying layer called the dermis. The surface where the two layers meet is called the basement membrane zone. The main forms of EB are EB Simplex, Junctional EB, and Dystrophic EB. EB Simplex occurs in the outer layer of skin; Junctional EB and Dystrophic EB occur in the basement membrane zone.
Symptoms of Epidermolysis Bullosa
The major sign of all forms of EB is fragile skin that blisters, which can lead to serious complications. For example, blistering areas may become infected, and blisters in the mouth or parts of the gastrointestinal tract may interfere with proper nutrition.
EB Simplex (EBS)–A generalized form of EBS usually begins with blistering that is evident at birth or shortly afterward. In a localized, mild form called Weber-Cockayne,, blisters rarely extend beyond the feet and hands. In some subtypes of EBS, the blisters occur over widespread areas of the body. Other signs may include thickened skin on the palms of the hands and soles of the feet; rough, thickened, or absent fingernails or toenails; and blistering of the soft tissues inside the mouth. Less common signs include growth retardation; blisters in the esophagus; anemia (a reduction in the red blood cells that carry oxygen to all parts of the body); scarring of the skin; and milia, which are small white skin cysts.
Junctional EB (JEB)–This disease is usually severe. In the most serious forms, large, ulcerated blisters on the face, trunk, and legs can be life-threatening due to complicated infections and loss of body fluid that leads to severe dehydration. Survival is also threatened by blisters that affect the esophagus, upper airway, stomach, intestines, and the urogenital system. Other signs found in both severe and mild forms of JEB include rough and thickened or absent fingernails and toenails; a thin appearance to the skin (called atrophic scarring); blisters on the scalp or loss of hair with scarring (scarring alopecia); malnutrition and anemia; growth retardation; involvement of soft tissue inside the mouth and nose; and poorly formed tooth enamel.
Dystrophic EB (DEB)–The dominant and recessive inherited forms of DEB have slightly different symptoms. In some dominant and mild recessive forms, blisters may appear only on the hands, feet, elbows, and knees; nails usually are shaped differently; milia may appear on the skin of the trunk and limbs; and there may be involvement of the soft tissues, especially the esophagus. The more severe recessive form is characterized by blisters over large body surfaces, loss of nails or rough or thick nails, atrophic scarring, milia, itching, anemia, and growth retardation. Severe forms of recessive DEB also may lead to severe eye inflammation with erosion of the cornea (clear covering over the front of the eye), early loss of teeth due to tooth decay, and blistering and scarring inside the mouth and gastrointestinal tract. In most people with this form of EB, some or all the fingers or toes may fuse (pseudosyndactyly). Also, individuals with recessive DEB have a high risk of developing a form of skin cancer called squamous cell carcinoma. It primarily occurs on the hands and feet. The cancer may begin as early as the teenage years. It tends to grow and spread faster in people with EB than in those without the disease.
Treatment of EB
Persons with mild forms of EB may not require extensive treatment. However, they should attempt to keep blisters from forming and prevent infection when blisters occur. Individuals with moderate and severe forms may have many complications and require psychological support along with attention to the care and protection of the skin and soft tissues.
Patients, parents, or other care providers should not feel that they must tackle all the complicated aspects of EB care alone. There are doctors, nurses, social workers, clergy members, psychologists, dietitians, and patient and parent support groups that can assist with care and provide information and emotional support. Preventing Blisters
In many forms of EB, blisters will form with the slightest pressure or friction. This may make parents hesitant to pick up and cuddle young babies. However, a baby needs to feel a gentle human touch and affection, and can be picked up when placed on a soft material and supported under the buttocks (bottom) and behind the neck. A baby with EB should never be picked up under the arms.
Caring for Blistered Skin
When blisters appear, the objectives of care are to reduce pain or discomfort, prevent excessive loss of body fluid, promote healing, and prevent infection.
The doctor may prescribe a mild analgesic to prevent discomfort during changes of dressings (bandages). Dressings that are sticking to the skin may be removed by soaking them off in warm water. While daily cleansing may include a bath with mild soaps, it may be more comfortable to bathe in stages where small areas are cleaned at a time.
Blisters can become quite large and create a large wound when they break. Therefore, a medical professional will likely provide instructions on how to safely break a blister in its early stages while still leaving the top skin intact to cover the underlying reddened area.
One technique is to pat the blister with an alcohol pad before popping it at the sides with a sterile needle or other sterile tool. The fluid can then drain into a sterile gauze that is used to dab the blister.
After opening and draining, the doctor may suggest that an antibiotic ointment be applied to the area of the blister before covering it with a sterile, nonsticking bandage. To prevent irritation of the skin from tape, a bandage can be secured with a strip of gauze that is tied around it. In milder cases of EB or where areas are difficult to keep covered, the doctor may recommend leaving a punctured blister open to the air.
A moderately moist environment promotes healing, but heavy drainage from blister areas may further irritate the skin, and an absorbent or foam dressing may be needed. There are also contact layer dressings where a mesh layer through which drainage can pass is placed on the wound and is topped by an outer absorbent layer. The doctor or other health care professional may recommend gauze or bandages that are soaked with petroleum jelly, glycerin, or moisturizing substances, or may suggest more extensive wound care bandages or products.
The chances of skin infection can be reduced by good nutrition, which builds the body’s defenses and promotes healing, and by careful skin care with clean hands and use of sterile materials. For added protection, the doctor may recommend antibiotic ointments and soaks.
Even in the presence of good care, it is possible for infection to develop. Signs of infection are redness and heat around an open area of skin, pus or a yellow drainage, excessive crusting on the wound surface, a red line or streak under the skin that spreads away from the blistered area, a wound that does not heal, and/or fever or chills.
The doctor may prescribe a specific soaking solution, an antibiotic ointment, or an oral antibiotic to reduce the growth of bacteria. Wounds that are not healing may be treated by a special wound covering or biologically developed skin.