Symptoms
Blisters are the key symptom of EB. These often appear in infancy. Unlike someone without EB, these blisters may form with only minimal pressure on the skin. These may become chronic, painful wounds. In some people with EB, only the skin is affected, but other symptoms are possible. Different subtypes of EB may cause somewhat different symptoms.
The severity of these symptoms can also vary quite a bit. Sometimes EB causes severe disability, causing severe blisters over much of the body. But other times it may only cause mild symptoms that require prevention techniques, with blisters only appearing on the hands and feet. This is partly based on the specific type and severity of the genetic mutation.
Some possible problems include:
Skin blisters (especially on the hands and feet) Blisters inside the mouth or throatScalp blistering, scarring, and hair lossSkin that appears overly thinItchy and painful skinTiny bumps on the skin (called milia)Problems with nail formation or growthDental problems from improperly formed teethDifficulty swallowingBlisters inside the digestive tract and anal areaDark patches on the skinPyloric atresia (obstruction of the lower part of the stomach)
Complications
These problems can cause additional medical complications. For example, blisters are prone to bursting open, which may lead to infection. In some cases, these can be life-threatening. Infants with severe forms of EB are particularly at risk.
Blisters in the mouth and throat can lead to nutritional deficiencies. This, in turn, may cause poor growth or other medical problems such as anemia or poor wound healing. Blisters in the anal region may cause constipation. Blisters in the throat might cause breathing difficulties in some infants.
Some people with severe EB also develop contractures, which can cause abnormal shortening or bending of certain joints. This can happen from repeated blistering and scar formation. This may lead to reduced mobility.
Infants born with pyloric atresia (a minority of people with EB) will have symptoms like vomiting, abdominal distension, and lack of stool. It is a medical emergency that requires surgery soon after birth.
People with certain types of EB also have an increased risk of squamous cell skin cancer as adolescents or adults.
In severe cases, your child may need immediate, life-saving treatment.
Causes
Most types of EB are caused by genetic mutations, which are changes in the genetic material that you inherit from your parents. To understand why these mutations lead to the symptoms of EB, it’s helpful to learn a little about how your skin works.
Normal skin
The various cells that make up your skin are tightly connected through special proteins. This is what keeps the cells connected to the cells nearby and to the deeper layers of tissue beneath. It is also what allows the cells to maintain their structure even when outside pressure is applied to the skin. Normally, our skin does well holding up under various kinds of pressure from the outside environment.
EB skin
So far, over 20 different genes have been identified that can lead to EB. These genes make different proteins that are important in helping your skin maintain its strength. If there is a genetic mutation in one of these proteins, it might cause the skin cells not to bind as tightly to each other. This can cause the skin to be fragile, causing cells to break apart from each other with only minimal pressure.
This is what causes blisters to form so easily. As an example, mutations in genes that make certain kinds of collagen can cause EB.
Types of EB
Epidermolysis bullosa can be classified into subtypes, partly based on the specific part of the skin that they affect.
Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex (EBS) is the most common form of EB. This type of EB affects only the outer layer of skin, the epidermis. Typically, it has less severe symptoms than other forms of EB. There is a specific subtype of EBS that comes with symptoms of muscular dystrophy, but not all people with EBS have this issue.
Junctional Epidermolysis Bullosa
Junctional epidermolysis bullosa (JEB) affects the part of the skin at the most interior layer of the epidermis. This type of EB may be severe, with symptoms beginning in infancy.
Dystrophic Epidermolysis Bullosa
Dystrophic epidermolysis bullosa (DEB) affects the part of the skin called the dermis, found in a deeper layer than the epidermis.
RDEB has the greatest potential for affecting internal organs and causing significant disability or even death.
Kindler Syndrome
This is a very rare form of EB that causes easy blistering and extreme sun sensitivity. Dark patches may appear on the skin, and it may appear dry and thin.
Epidermolysis Bullosa Acquisita
Epidermolysis bullosa acquisita is different from other forms of EB. It is not caused by a straightforward genetic mutation. Instead, it is thought to be caused by a form of autoimmune disease. Unlike the other forms of EB, symptoms often don’t appear until people are in their 30s or 40s.
Diagnosis
The initial part of diagnosis is a thorough medical history, which should include the individual’s personal medical history and family history. This includes questions about symptoms and when they began.
A thorough medical exam is also an important part of a diagnosis. The healthcare provider should perform a medical exam of the whole body, including a careful examination of the skin. Taken together, the medical history and clinical exam are often enough for a practitioner to make a preliminary diagnosis of EB.
A next step is often skin biopsy. For this, someone removes a small section of the affected skin, after first cleaning and numbing the area with an anesthetic. Then the sample can be analyzed in a laboratory. This can help identify the subtype of EB.
Genetic analysis is also often part of the diagnosis. For this, a small blood sample is taken. Then special genetics tests are used to identify the specific genetic mutation causing the disease. This may give information about the severity of the condition as well as the specific symptoms that might be likely to occur. It also gives information about how the gene might be expected to be inherited in the family.
Treatment
Unfortunately, treatment for EB is still quite limited. Treatment focuses on preventing damage, lessening the impact of symptoms, and preventing and treating complications. At this time, there is no treatment that works to treat the disease process itself.
Preventing Skin Damage
One of the most important things to do when managing EB is to prevent the formation of blisters as much as possible. Even minor trauma may cause a blister to form. Some prevention techniques are as follows:
be very gentle when handling the skin of someone with EBuse loosely fitting, soft clothes and padded shoeschildren in diapers may need extra padding at the legs and waist (remove elastic bands)avoid adhesive or semi-adhesive bandages on the skin surfacetrim your child’s nails regularly to help prevent scratchingtry to keep the skin cool—nothing hot should be applied to the skinkeep the skin moist using gentle lubricants such as petroleum jellycover hard surfaces to avoid skin trauma
Lessening Symptoms
People with EB may need pain medications to lessen their discomfort. Different medications may also help to lessen itching.
Treating and Preventing Complications
Wound care is a very important aspect of treatment for EB. This will help prevent serious infection and allow for more rapid healing. Many people with EB will have wound dressings that need to be changed every day or two. A nurse may be able to provide you will special education and assistance in managing this problem.
Other aspects of care might include:
antibiotics if the skin becomes infectedfeeding tube, if needed, to help meet nutritional needsskin graft if scarring has affected hand functionrehabilitation therapy or surgery to treat joint contractures
Investigational Treatments
Researchers are looking at new treatments that might one day be used to treat EB more directly. Some possible future treatments might involve bone marrow transplantation, gene therapies, or other advances. Some of these therapies may be undergoing clinical trials. Talk to your healthcare provider if you are interested in potentially participating in a clinical trial. Or check out the United States database for clinical trials.
Inheritance
Most cases of EB are caused by a specific genetic mutation. Some types of EB are caused by a dominant mutation. That means that a person only needs to inherit one copy of an affected gene to get the condition. Other types of EB are caused by a recessive mutation. For these types, a person has to receive an affected copy of a gene from both parents.
If EB runs in your family, or if you have already had a child with EB, you may find it helpful to speak to a genetic counselor. This person can give you an idea of the risks of having another child with EB in the future. Prenatal testing may be possible for some types of EB.
Coping
Some people suffer from problems with self-esteem due to EB. They may be embarrassed by the visibility of their lesions, or feel excluded if they can’t participate in certain activities. For some people, it can lead to social isolation, anxiety, and depression. The chronic, visible nature of the disease can be very difficult for people. For some people, this can be the most challenging aspect of EB. So if you feel that way, know you aren’t alone. Sometimes people even with milder forms of the disease may feel this way.
Dealing with a chronic disease is never easy. Don’t hesitate to reach out for psychological support from a professional. Many people dealing with EB find it helpful to connect with others with this condition. For example, patient networks such as the Dystrophic Epidermolysis Bullosa Research Association of American have made it easier to connect with others who understand what you are experiencing.
A Word From Verywell
Coping with a chronic condition like epidermolysis bullosa is a challenge. For many people, it will require daily care and attention. New parents can be understandably anxious about learning how to manage the condition in their child. But learning as much as you can about EB and how to prevent its complications can help you feel more empowered and in control. Your medical team will also be available to help you and your family make the best possible medical decisions.
