Bullous epidermolysis

What injuries does it cause?

The genetic defect in these patients affects the proteins that hold the skin together. These anchoring or holding proteins work poorly and cause the epidermis to detach, a fact that causes the formation of blisters and erosions, both in the skin and in the mucous membranes (mouth, pharynx, esophagus, eyes, etc.). Depending on the level of blister formation, EBs are classified into three types:

• Simple or epidermolytic: detachment takes place within the epidermis. They are the most frequent and mild because the detachment is superficial and leads to wounds that heal easily.
• Junctional or union: detachment occurs at the base of the epidermis.
• Dermolytic or dystrophic: detachment occurs below the base of the epidermis. They are the most serious, since the continuous formation of blisters and deeper erosions creates irreparable scars.

How is it diagnosed?

These diseases are diagnosed based on a combination of clinical findings, biopsies, and genetic studies. As these diseases are hereditary, there is the possibility of testing the whole family and having genetic counseling in case of wanting to have children, since it can offer an estimate of the probability that a child is affected. In some cases, prenatal diagnosis is also possible, important in the most serious forms, since it can be the reason for abortion.

What is the life prognosis of these patients?

Fortunately, simple BEs are the most common and with proper skin care these patients can lead normal lives. The blisters heal without loss of tissue and, in addition, affected people may improve over time. Severe forms can lead to scars, retractions, and amputations, as well as internal disturbances such as narrowing of the esophagus. In the long term they cause disability and premature death.

What is the treatment based on?

There are few professionals with experience in these rare diseases, although the pediatric dermatology units of large hospitals can undertake the management of these patients with all the guarantees. Your life, especially those with severe forms, depends on skin care.

Family training is essential so that they learn to care for the patient with protective bandages and protect the skin. Ideally, the critically ill patient should be cared for by a multidisciplinary team that includes dermatologists, pediatricians, nutritionists, surgeons, orthopedists, ophthalmologists, physiotherapists, psychologists, and trained nurses. However, there is no specific treatment.

• Epidermolysis bullosa or bullosa (EB) manifests itself with the formation of blisters and erosions both on the skin and on the mucous membranes (mouth, pharynx, esophagus, eyes, etc.).
• Being a group of inherited diseases, the whole family can be tested and genetic counseling available that calculates the probability that a child is affected.
• Simple BE are the most frequent and with correct skin care these patients can lead a normal life.

Dermatology Specialist