Though EB is considered a rare disease, diseases in this group affect nearly half a million people globally.
Symptoms
Blisters are the key symptom of EB.
These often appear in infancy.
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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.
This is partly based on the specific jot down and severity of the genetic mutation.
Some possible problems include:
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 asanemiaor 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.
It is a medical emergency that requires surgery soon after birth.
People with certain types of EB also have an increased risk ofsquamous cell skin canceras adolescents or adults.
Seeking Emergency Treatment
Seek medical attention immediately if your child has difficulty breathing or swallowing.
In severe cases, your child may need immediate, life-saving treatment.
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.
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.
This is what causes blisters to form so easily.
As an example, mutations in genes that make certain kinds of collagen can cause EB.
Epidermolysis Bullosa Simplex
Epidermolysis bullosa simplex (EBS) is the most common form of EB.
This bang out of EB affects only the outer layer of skin, the epidermis.
Typically, it has less severe symptoms than other forms of EB.
This pop in of EB may be severe, with symptoms beginning in infancy.
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 brought on by a straightforward genetic mutation.
Instead, it is thought to be resulting from a form ofautoimmune disease.
Unlike the other forms of EB, symptoms often dont appear until people are in their 30s or 40s.
This includes questions about symptoms and when they began.
A thorough medical exam is also an important part of a diagnosis.
A next step is often skin biopsy.
Then the sample can be analyzed in a laboratory.
This can help identify the subtype of EB.
Genetic analysisis 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.
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.
Currently, no treatment works to treat the disease process itself, only the complications from EB.
Even minor trauma may cause a blister to form.
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.
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 Statesdatabase for clinical trials.
Inheritance
Most cases of EB are triggered by a specific genetic mutation.
Some types of EB are because of 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 due to a recessive mutation.
For these types, a person has to receive an affected copy of a gene from both parents.
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.
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 arent alone.
Sometimes people even with milder forms of the disease may feel this way.
Dealing with a chronic disease is never easy.
Dont 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.
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.
Your medical team will also be available to help you and your family make the best possible medical decisions.
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Kiritsi D, Nystrom A.Recent advances in understanding and managing epidermolysis bullosa.F1000Res.
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