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Epidermolysis Bullosa

Last reviewed by Dr. Raj MD on January 12th, 2022.

What is Epidermolysis Bullosa?

This is a group of skin conditions that results in blistering from a variety of things. There are four types of this skin condition and most of them will initially affect young children and infants and usually start at birth or right after birth.

There are some people that do not have any symptoms until adolescence or into early adulthood because they have a mild form of epidermolysis bullosa.

If a person has a mild form it could improve as they get older but if it is a severe form it could cause complications that are serious and could be fatal.


There are four types of this skin condition which include:

  1. Dystrophic epidermolysis bullosa – this type can range from mild to severe. It is also usually apparent during birth or early childhood.
  2. Epidermolysis bullosa simplex – this is usually the mildest form and the most common. It will normally begin at birth or soon after. With this type the parts of the skin that is mostly affected are the soles and palms.
  3. Junctional epidermolysis bullosa – this type is usually the severe type and it is apparent at birth.
  4. Epidermolysis bullosa acquista – this is a rare type.

Each of these four types also has various sub-types.

Approximately one in fifty thousand children born will have epidermolysis bullosa. In the general population there are nine in one million that suffer from epidermolysis bullosa. It can happen in any race and gender.

Epidermolysis Bullosa Symptoms

The main symptom of epidermolysis bullosa is blisters that are fluid-filled erupt on the skin. This mostly happens on the feet and hands but can happen on other areas of the body.

How severe it is and how widespread depends on the type of epidermolysis bullosa a person has. If the case is mild the blisters will usually heal without any scarring.

The symptoms that a person would have depend on the type but could include:

  • Loss or deformity of toenails and fingernails.
  • Having internal blistering including on the upper airway, intestines, stomach, throat, urinary tract, and esophagus.
  • Thickening skin on the soles of the feet and the palms of the hands called hyperkeratosis.
  • Hair loss, scarring, and blistering of the scalp called scarring alopecia.
  • Skin that is thin-appearing called atrophic scarring.
  • Pimples or tiny white skin bumps called Milia.
  • Dental abnormalities like tooth decay from tooth enamel that formed poorly.
  • Sweating excessively
  • Having difficulty swallowing called dysphagia.
  • Having blisters around the nose and eyes.
  • Having a cough, other breathing problems, or a hoarse cry.


Epidermolysis bullosa is a genetic disease so in most cases it is inherited. During research it has been discovered that there are more than ten genes that are involved with the formation of your skin and if any of these genes are defective it is possible that they could cause one of the types of epidermolysis bullosa.

There is a chance that a person could develop this skin condition because of a random mutation in the gene during the formation of the sperm cell or the egg. With epidermolysis bullosa the blistering could also be a response to heat, friction from rubbing against something, a response to a minor injury, adhesive tape, or scratching.

The causes of the four types of epidermolysis bullosa are:

Dystrophic epidermolysis bullosa

The cause of this type is the defective genes that help to produce a certain type of collagen, which is a type of protein that is strong and is found in the fibers that hold the toughest, deepest layer of the skin together.

When this happens the fibers are either nonfunctional or missing. This type can be either recessive or dominant.

Epidermolysis bullosa simplex

The cause of this type is the defective genes that involved in the production of keratin, which is in the top layer of your skin and is a fibrous protein.

It is most likely that the person inherited a single copy of the gene that was defective from one of the parents. If one parent has the defective gene, there is a fifty percent chance that their child will have the defect.

Junctional epidermolysis bullosa

The cause of this type is the defective genes that are involved in the formation of hemidesmosomes, which are fibers that are thread-like that attach your basement membrane to your epidermis. The defective genes result from both of the parents being carriers of one copy of the defective gene.

Though they pass the defective gene on neither parent may have epidermolysis bullosa. There is a twenty-five percent of their children inheriting both of the defective genes and develop this disorder.

Epidermolysis bullosa acquista

This type is not inherited and the blistering that happens is usually the result of your immune system attacking the healthy tissues mistakenly.


It is possible that when the physician looks at the appearance of the skin that they may suspect that it is epidermolysis bullosa but they still need to do tests to make a positive diagnosis. Some of the tests the physician may perform may include:

Skin biopsy

The physician will take a small sample of the skin that is affected and look at it under the microscope. This will let the physician know which type of epidermolysis bullosa they have and which layer of the skin is separating.

Genetic testing

Since most cases are inherited the physician will have a blood sample taken and sent to the lab. They will analysis it in order to confirm the diagnosis.


The main goal of treatment is to help ease the discomfort from the blistering and to help prevent complications in addition to preventing the blisters from forming. At this time there is no cure for epidermolysis bullosa. Some of the treatments that may be used include:

For skin care

The blisters in this disease can be large and once they break they become susceptible to fluid loss and infection so your physician may recommend treating the raw skin and blisters these ways.

  • If the physician asks you to puncture the blisters you need to make sure that you are using a sterile needle so the blister does not spread any further. Make sure that you leave the top of the blister intact so you are protecting the skin underneath but still allowing it to drain.
  • Apply petroleum jelly, antibiotic ointment, or some type of moisturizing substance before you put on a special bandage that is non-sticking.
  • Soak the wounds with a disinfectant solution because if the wounds are not healing it could be infected with bacteria. You can soak them by using a solution of diluted vinegar. Usually you will start with a low concentration so it does not sting but though it might sting it does help to remove germs.

Other treatments that may be used is to take oral steroid medications if you have problems swallowing or get a yeast infection in your throat or mouth. If the sores are deep a person may need skin grafting, repairing of any deformities of the hands with surgery.

Your physician may prescribe medication that will suppress your immune system if you have the autoimmune type.

Life Expectancy

How long a person will live with epidermolysis bullosa depends on how severe the disorder is. Normally if a person has a very serious form there is a high mortality rate. With mild cases epidermolysis bullosa may improve with age.

Epidermolysis Bullosa Pictures

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