Epidermolysis Bullosa Definition, Reason, Symptoms, Treatment & Prevention
Definition
Epidermolysis bullosa (EB) is a disorder that causes blisters on the skin and mucous membranes. This condition is classified as an inherited chronic bullous disease. The prevalence of this disease is estimated at 1:50,000 births.
This disease is characterized by the appearance of bullae (fluid-filled bubbles) which can arise spontaneously or as a result of minor trauma. Blistered skin can occur as a reaction from friction.
Symptom
Epidermolysis bullosa (EB) can cause a variety of symptoms such as:
1. Skin blisters. An important symptom in patients with EB is the appearance of rashes, sores or blisters on the skin. These blisters can cause extreme pain. The rash occurs in areas that experience a lot of friction, such as the hands, feet, neck and lower legs.
2. Mucosal disorders and nail disorders (dystrophic).
3. Hair loss is also a common symptom associated with epidermolysis bullosa.
The most common variant of EB is localized simple epidermolysis bullosa on the hands and feet, also known as the Weber-Cockayne type. This type usually occurs early in life, and first appears between the ages of 3–12 months to 2 years of age.
Bullae of this type usually occur on the hands, feet, neck, and lower legs. In addition to bullae, sufferers may also show hyperkeratosis on the palms and soles.
Reason
The exact cause of epidermolysis bullosa (EB) is still not known with certainty. This disease is an inherited disease.
There are several theories that attempt to explain the mechanism of EB disease. The presence of cytolytic enzyme activity or the occurrence of protein structures that are sensitive to changes in temperature is thought to be the trigger for the emergence of EB. In simplex epidermolysis bullosa, it is suspected that there is abnormal protein formation that is sensitive to changes in hot temperature.
Diagnosis
Determining the diagnosis of epidermolysis bullosa (EB) can be done through medical interviews and physical examinations. The physical examination aims to find the presence of rashes and blisters on the extremities. Investigations in the form of laboratory tests can be done to confirm the diagnosis. Tests that can be done are:
- Genetic test. This examination was carried out because most cases of EB occur due to inheritance from parents to children.
- Skin biopsy. Examination is done by taking a small portion of the skin to check the protein content in it.
Treatment
Handling of epidermolysis bullosa (EB) is by avoiding friction. EB sufferers are also advised to wear soft clothing.
Treatment of bullae can be done by suctioning the bullae with a sterile needle and leaving the bulla wall as a protector. The part of the skin that is experiencing erosion can be applied with an antibiotic ointment. Foods with a high protein content are needed to replace protein losses through the abrasions that occur.
Some medications such as moderate potency corticosteroid ointment can be used in severe and fatal cases. Handling EB cases requires direct examination and is adjusted to the skin condition of each patient.
Prevention
There is no prevention for this disease. Avoid the emergence of bullae by avoiding friction with clothes or avoiding injury.