Filed under: Beauty & Plastic Surgery
Epidermolysis bullosa (ep-ih-dur-MOL-uh-sis buhl-LO-sah) is a group of skin conditions whose hallmark is blistering in response to minor injury, heat, or friction from rubbing, scratching or adhesive tape. Four main types of epidermolysis bullosa exist, with numerous subtypes. Most are inherited.
Most types of epidermolysis bullosa initially affect infants and young children, although some people with mild forms of the condition don't develop signs and symptoms until adolescence or early adulthood. Mild forms of epidermolysis bullosa may improve with age, but severe forms may cause serious complications and can be fatal.
There's currently no cure for epidermolysis bullosa. For now, treatment focuses on addressing the symptoms, including pain prevention, wound prevention, infection and severe itching that occurs with continuous wound healing.
The primary indication of epidermolysis bullosa is the eruption of fluid-filled blisters (bullae) on the skin, most commonly on the hands and feet in response to friction. Blisters of epidermolysis bullosa typically develop in various areas, depending on the type. In mild cases, blisters heal without scarring.
Signs and symptoms of epidermolysis bullosa may include:
When to see a doctor
Contact your doctor promptly if you or your child develops blisters, particularly if there's no apparent reason for them.
In some cases of epidermolysis bullosa, blistering may not appear until a toddler first begins to walk, or until an older child begins new physical activities that trigger more intense friction on the feet.
Call your doctor immediately if you or your child experiences problems swallowing or breathing.
Also seek immediate care if you or your child has been diagnosed with epidermolysis bullosa and develops signs of an infection around an open area of skin, including:
Blisters can lead to infection and deformity. Your doctor can show you how to care for them properly and advise you on ways to prevent them.
In most cases, epidermolysis bullosa is inherited. Researchers have identified more than 10 genes involved with skin formation that, if defective, may cause a type of epidermolysis bullosa. It's also possible to develop epidermolysis bullosa as a result of a random mutation in a gene that occurred during the formation of an egg or sperm cell.
Your skin comprises an outer layer (epidermis) and an underlying layer (dermis). The area where the layers meet is called the basement membrane zone. Where and when blisters develop depend on the type of epidermolysis bullosa.
The four main types of this condition are:
Epidermolysis bullosa simplex. This most common and generally mildest form usually begins at birth or during early infancy. In some people, mainly the palms of the hands and soles of the feet are affected. In epidermolysis bullosa simplex, the faulty genes are those involved in the production of keratin, a fibrous protein in the top layer of skin. The condition causes the skin to split in the epidermis, which produces blisters, usually without scar formation.
If you have epidermolysis bullosa simplex, it's likely you inherited a single copy of the defective gene from one of your parents (autosomal dominant inheritance pattern). If one parent has the single faulty gene, there's a 50 percent chance that each of his or her offspring will have the defect.
Junctional epidermolysis bullosa. This usually severe type of the disorder generally becomes apparent at birth. In junctional epidermolysis bullosa, the faulty genes are involved in the formation of thread-like fibers (hemidesmosomes) that attach your epidermis to your basement membrane. This gene defect causes tissue separation and blistering in your basement membrane zone.
Junctional epidermolysis bullosa is the result of both parents carrying one copy of the defective gene and passing on the defective gene (autosomal recessive inheritance pattern), although neither parent may clinically have the disorder (silent mutation). If both parents carry one faulty gene, there's a 25 percent chance each of their offspring will inherit two defective genes — one from each parent — and develop the disorder.
Epidermolysis bullosa acquisita (EBA) is another rare type of epidermolysis bullosa, which isn't inherited. Blistering associated with this condition occurs as the result of the immune system mistakenly attacking healthy tissue. It's similar to a condition called bullous pemphigoid, which also is related to an immune system disorder. EBA has been associated with Crohn's disease, an inflammatory bowel disease.
In its more-severe forms, epidermolysis bullosa can have serious complications and can be fatal. Possible complications include:
Call your doctor if your baby or child develops unexplained blisters. Mention right away if your baby or child has any signs of infection around a blister, such as pus, redness, increasing pain or warm skin. In some cases, your doctor may recommend immediate medical care.
After examining your child, your doctor may refer you to a specialist in the diagnosis and treatment of skin conditions (dermatologist).
Here's some information to help you prepare for your appointment.
What you can do
For epidermolysis bullosa, some basic questions to ask your doctor include:
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment at any time that you don't understand something.
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to talk about in-depth. Your doctor may ask:
What you can do in the meantime
In the time leading up to your appointment, you can minimize the risk of your child developing new blisters by:
Call your doctor immediately if you see signs of possible infection around a blister.
Your doctor may suspect epidermolysis bullosa from the appearance of the skin, but laboratory tests are needed to confirm the diagnosis. They include:
Treatment of epidermolysis bullosa aims mainly at preventing complications and easing discomfort from blistering.
Blisters may be large and, once broken, susceptible to infection and fluid loss. Your doctor may recommend the following tips for treating blisters and raw skin:
Ideally, deformities and fusion of the hands and feet can be prevented with daily protective wrapping. However, repeated blistering and scarring can cause deformities, such as fusing of the fingers or toes or abnormal bends in the joints (contractures). Your doctor may recommend surgery to correct these deformities, particularly if they interfere with normal motion.
Blistering and scarring of the esophagus may lead to esophageal narrowing, making eating difficult. Surgery to widen (dilate) the esophagus may be needed. Using light sedation, the surgeon positions a small balloon in the esophagus and inflates it to dilate the area.
To improve nutrition and help with weight gain, a tube (gastrostomy tube) may be implanted to deliver food directly to the stomach. Feedings through the tube may be delivered overnight using a pump. Eating through the mouth is continued if possible so that the child will be able to eat with others for normal socializing.
Working with a physical therapist can help ease the limitations on motion caused by scarring and shortening of the skin (contracture). Swimming may be helpful for many people.
Intensive studies are under way to find better ways to treat and relieve the symptoms of epidermolysis bullosa, including gene replacement, bone marrow transplantation and recombinant protein therapies.
Careful wound care and good nutrition are essential to your or your child's health. If blisters are left intact, they can enlarge, which creates a bigger wound when they finally break. Talk to your doctor about safe ways for you to break and drain blisters before they get too large. Your doctor can also recommend products to use to keep the affected areas moist to promote healing, such as gauze that contains a moisturizing agent, and prevent infection.
When tending to your child's wounds:
If oral or esophageal blisters are inhibiting your child's ability to eat, here are some suggestions:
Caring for a child with a chronic disease can be stressful. And providing your child with the emotional support needed to live with a chronic illness and to deal with being different from other children can be extremely difficult. For some people, sharing concerns and information with families in similar circumstances can be helpful.
Ask your health care providers for epidermolysis bullosa support groups in your area. If joining a support group isn't for you, ask about counselors, clergy or social workers who work with families coping with epidermolysis bullosa.
Bandages for patients with epidermolysis bullosa can be expensive. Companies that make these bandages may be willing to work with your insurance company to obtain coverage.
It's not possible to prevent epidermolysis bullosa, but you can take steps to help prevent blisters, for yourself or for your child.