Epidermolysis bullosa
Epidermolysis bullosa is a group of diseases that cause blisters on the skin Blisters can be caused by minor trauma, heat, friction, scratching, or taping. In severe cases, blisters form inside the body, such as in the mouth or intestines
Most forms of epidermolysis bullosa are hereditary The condition manifests itself in early childhood or infancy Some people do not develop symptoms until adolescence or early adulthood
Epidermolysis bullosa cannot be cured, however mild forms can be alleviated with age. Treatment is aimed at relieving symptoms such as infection and itching Treatment also focuses on avoiding pain and injury Severe forms of the disease may cause serious complications, which are sometimes fatal
Epidermolysis bullosa is mostly hereditary Researchers have identified a number of genes associated with skin sloughing, in the event of a defect, it is possible to develop emydermolysis bullosa.
The skin consists of the outer layer (epidermis) and the underlying layer (dermis). The junction of these two layers is called the basement membrane zone The form of epidermolysis bullosa depends on the layer in which the blisters form
Main forms of bullous epidermolysis:
- Simple bullous epidermolysis This is the most common form of the disease It is formed at birth or in newborns and affects mainly the hands and feet
In the simple form of epidermolysis bullosa, the gene necessary for the production of the fibrous protein (keratin) in the upper part of the skin is defective. This stagnation causes blisters on the epidermis In this mild form, blisters do not turn into scars
If a patient has simple epidermolysis bullosa, it means that the patient received one defective gene from one of the parents (autosomal dominant inheritance). If one parent carries the defective gene, there is a 50% chance that their child will pass on the gene. - Connective epidermolysis bullosa This is a severe form that appears at birth In this condition, the baby has a hoarse cry because bumps and scars are constantly forming in the vocal cords.
The disease is caused by a defect in the gene responsible for the formation of waxy fibers (fibrils). These fibers anchor the epidermis to the basement membrane The gene defect causes tissue separation and blistering in the deeper layers of the skin
In conjunctive epidermolysis bullosa, both parents carry one defective gene that they pass on to their child (autosomal recessive inheritance). However, neither parent has symptoms of the disease (silent mutation). If both parents carry one defective gene, the child has a 25% chance of having the disease. - Dystrophic bullous epidermolysis In this form, the patient may have both mild and severe symptoms The disease manifests itself at birth or in early childhood
The condition is linked to a gene needed to make collagen In the absence or dysfunction of these substances, the layers of the skin do not attach normally to each other
This form can be either dominant or recessive - Kindler syndrome This form is rare and manifests itself at birth or in early childhood
This condition is called mixed type because blisters appear in both layers of the skin The condition may improve and disappear over time This is the only form that causes sun exposure to form a patchy skin rash
Kinler syndrome is transmitted in the form of recessive inheritance - Epidermolysis bullosa acquisita is a rare form that is not inherited Blisters form as a result of the immune system mistakenly attacking its own healthy tissue This disease is similar to another disease of the immune system called bullous pemphigoid In this form, blisters form on the palms of the hands, feet, and mucous membranes
Symptoms of epidermolysis bullosa:
- Fluid-filled blisters on the skin, especially on the palms of the hands and feet. Greater involvement of the feet and ankles due to friction
- Loss or deformity of fingernails and toenails
- Internal bleeding such as in the vocal cords, esophagus or upper respiratory tract
- Thickening of the skin on the palms of the hands and feet
- Blisters, scarring and hair loss
When to see a doctor
See a doctor if you or your child has blisters Ask for help especially when you cannot explain the cause of the condition
Get medical help if your child:
- Has trouble swallowing
- Has trouble breathing
- Shows signs of infection, such as warm, red, painful, or scaly skin or a foul odor at the site of the injury, fever, and chills
