What is epidermolysis bullosa?

Epidermolysis bullosa refers to a set of rare diseases that generate fragile skin with blisters in the patient. There are 4 main variants of this pathology: dystrophic, simple, hemidesmosomal and junctional. The prevalence of the simple type – one of the most common – is 6 patients per million births.

In this disease, characteristic blisters occur after a minor injury, such as slight friction or the application of heat. In addition, it should be noted that it is a hereditary pathology, that is, it is transmitted from parents to children.

What is epidermolysis bullosa?

As we said, There are 4 variants of this pathology. We tell you the 3 most common in the following sections.

1. Simple epidermolysis

As indicated by the portal Medscapeis the most common variant, with an approximate prevalence of 6-7 cases per million newborns. If it occurs as a mild subtype, it only causes blisters on the soles of the feet and the palms of the hands.

On the other hand, the severe subtype causes blisters on the trunk, neck, arms, and oral mucosa. These occur spontaneously or after simple trauma. Bullous upwellings occur in the basal cells of the epidermis.

2. Dystrophic epidermolysis

Mild and moderate subtypes They affect only the elbows, hands, knees, and feet. On the other hand, the severe variant presents with diffuse mucocutaneous blisters at birth, as explained in the MSD Manual. In some cases, the entire gastrointestinal mucosa and the surface of the skin can be affected simultaneously.

3. Junctional epidermolysis

A mild subtype affects the previously named areas in mild cases and usually decreases in terms of symptoms after breastfeeding. On the other hand, severe cases involve the conjunctiva, the mouth, the digestive tract, the respiratory tract, and the genitourinary tract.

This variant of epidermolysis bullosa affects less than 2.5 infants per million live newborns. As indicated by the Spanish Federation of Rare Diseases, on this occasion the blisters form in the lamina lucida of the basement membrane.

The anatomy of the skin is the basis for explaining why these blisters occur. It turns out that there are detachments between the junctions of the cells.

To know more: Blisters on the skin, 7 tips to heal them

Causes and risk factors

As indicated by the Mayo Clinic, epidermolysis bullosa is hereditary in most cases. This disease can arise when the causal genetic mutations are carried by one of the two parents (autosomal dominant), both (autosomal recessive) or, more rarely, appear in an acquired form over time.

The acquired variant can manifest at any age, while the congenital one begins at birth or shortly thereafter. Depending on the type of epidermolysis bullosa, various risk factors can be cited:

  • Having parents with a history of epidermolysis: for this reason genetic counseling is recommended for prospective parents with any history of the disease.
  • Present autoimmune diseases: According to the MSD Manual, acquired epidermolysis bullosa is believed to be associated with autoimmune pathologies. Antibodies directed to type VII collagen, an essential protein in the dermoepithelial junction, participate in them.
  • Have other disorders: multiple myeloma, amyloidosis, lymphoma, inflammatory bowel disease, and systemic lupus erythematosus.

Main symptoms of epidermolysis bullosa

The main sign is the appearance of blisters with minimal stimuli, such as the application of heat, a touch, a caress or a hug. The US National Library of Medicine lists the most common accessory symptoms. Among them we find the following:

  • Alopecia or hair loss, product of the healing of the injured skin.
  • Blisters around the eyes and nose.
  • Difficulty breathing. It manifests itself when blisters form on the mucosa of the respiratory tree.
  • Blisters in or around the mouth and throat. This causes difficulty in swallowing in the infant (dysphagia). Dental problems, such as cavities, can also appear.
  • Deformity, atypical thickening and loss of nails.
  • Skin with abundant itching and pain.

The range of symptoms that a patient can present is very wide. This can range from the formation of blisters with a friction to that they appear inside the body, thus damaging organs and physiological structures essential for life.


The first step in diagnosing epidermolysis bullosa is to analyze the patient's skin. After this samples of your epidermis are taken, genetic tests and certain special microscopic examinations are performed.

Family history can show the mode of inheritance of the disease and, therefore, its variant.

Treatment of epidermolysis bullosa

First of all, it is necessary to emphasize that this disease can never be cured. For this reason, it is essential to make changes in the patient's lifestyle and home, in addition to seeking professional help on various fronts.

We present some of the most common approach methods:

  • Medicines: They can be prescribed to relieve itching, swelling and pain. Antibiotics are also needed if the blisters lead to a generalized bacterial infection.
  • Surgery: Skin grafts may be necessary in case the superficial blisters compromise the epidermal structure. If these formations appear on the internal mucosa, a widening of the esophagus and the placement of a gastric tube may be required.
  • Physiotherapy: physical therapy and occupational therapy can help the patient manage pain and regain mobility.

Severe cases are serious and can put the patient's life at risk, favoring systemic infections.


Talking about the prognosis of epidermolysis bullosa is complex, since it depends a lot on the severity and type of presentation. Mild forms improve with age and their symptomatic peak is during childhood, while the serious ones report a very high mortality rate.

One of the biggest dangers is a systemic infection. When the skin is so damaged, it is possible that bacterial agents enter easier, which favors the evolution towards shock septic and death.

To know more: What is sepsis or septicemia?

Among the rare diseases, epidermolysis bullosa

Epidermolysis bullosa is a very rare disease, as its most common variant only affects 6-7 infants per million newborns. In addition, it is possible to intuit when it will appear based on certain genetic tests and family history.

In mild cases, following the doctor's instructions, modifying daily habits, and taking drugs when necessary may be enough. Unfortunately, serious pictures have very bad prognoses.