Epidermolysis Bullosa (EB), or epidermal blistering, is a genetically determined skin disease. In its course, the skin is as delicate as a butterfly's wings, which causes the formation of numerous skin lesions (including blisters) as a result of even a minor trauma, which is why children struggling with this disease are commonly butterfly children. What are the causes and symptoms of epidermal blistering? What is the treatment?

Epidermolysis Bullosa (EB ), i.e.epidermal blistering , is a genetically determined group of skin diseases, specifically epidermal blistering diseases, the essence of which is an incorrect connection between the dermis, the basal membrane and the epidermis, and between the cells of the epidermis. As a result of this defect, the skin of sick people is as delicate asbutterfly wings , which causes - spontaneously or under the influence of even a minor trauma - the formation of numerous skin lesions.

There are four types of disease:

The prevalence of the disease according to data from the National EB Registry (NEBR) is estimated at 1/50,000-100,000 live births

1. Epidermolysis bullosa simplex (EBS - simple form) - is the most common type of EB, which comprises 70 percent. all cases. In this type, blisters form within the epidermis.

2. Dystrophic epidermolysis bullosa (EBD - dystrophic form) - covers 25%. all cases. Blisters form in the dermis.

3. Junctional epidermolysis bullosa (EBJ - the junction form) - it is diagnosed in 5%. cases. Blisters are formed in the basement membrane - it separates the epidermis from the dermis.

4. Kindler's syndrome - blisters located in different layers of the epidermis

Epidermolysis Bullosa (EB) - epidermal blistering - causes

The disease is caused by a mutation in the genes encoding various proteins that are involved in the formation of connections between the dermis, the basal membrane and the epidermis, and between the epidermal cells

The gene in which it happened depends on the type of disease:

  • EBS - mutations in one of the genes: KRT5, KRT14, PLEC1, ITGA6, ITGB4, PKP1, DSP1 are responsible for this type of disease. For example, the KRT 5 gene encodes keratin 5, a proteinforming the epidermis. The disease subtype with this mutation is called Bullosa-Cockayne Epidermolysis
  • EBJ - this type of disease is caused by a mutation in one of the genes: LAMB3, LAMC2, LAMA3 (these are the genes encoding laminin - a protein that is the main component of the basement membrane), as well as COL17A1, ITGA6, ITGB4.
  • EBD - the dystrophic form is caused by a mutation in the COL7A gene, which contains instructions for the formation of type VII collagen. This type of protein is found in epithelial tissue, incl. in the skin and on the surface of arteries. This subtype of the disease is called Hallopeau-Siemens EB

GOOD TO KNOW>>GENETIC DISEASES: causes, inheritance and diagnosis

Blistering epidermal detachmentmay be inherited in an autosomal dominant (EBD, EBS) or autosomal recessive (EBD, EBJ, EBS) manner. The method of inheritance depends, among others depending on the type and subtype of the disease and which gene was affected by the mutation.

Epidermolysis Bullosa (EB), epidermal blistering - symptoms

A hallmark of the disease is generalized blistering at birth or in early infancy. They are most often formed in the area of ​​the elbows, feet, hands and knees. In addition, there are skin changes, such as:

In severe cases, the disease makes it impossible to walk or eat. In addition, the patient complains of enormous pain, which also accompanies him at night

  • prosaki - these are hard nodules of yellowish or white color that appear under a strongly tense epidermis
  • milie - these are small cysts that look like white spots on the skin, especially the face
  • pigmentation discoloration - spots darker than the surrounding he althy skin
  • erosions - small wounds with an uneven, papillary surface
  • scars
  • epidermal cavities
  • nail plate changes - dystrophy (abnormal development) or missing nails
  • alopecia

Some patients may develop pseudosndactyly in the hands and feet. This is a condition in which blisters and scars appear around the fingers and feet, leading to contractures and adhesions.

Blisters, erosions, scars and adhesions leading to constriction may also affect internal organs, e.g. the gastrointestinal tract (esophagus and rectal adhesions), urinary tract, lungs.

In addition, patients may struggle with a defect in the tooth enamel and inflammation of the eyelid margins.

The exact course of the disease (type and severity of the above-mentioned symptoms) depends on the genetic mutation.

Epidermolysis Bullosa (EB), bullous separationepidermis - diagnosis

Initial diagnosis can be made on the basis of the above-mentioned symptoms. In order to answer the question of which type of disease we are dealing with, microscopic examination of the skin section and genetic tests should be performed.

Epidermolysis Bullosa (EB), bullous epidermal detachment - treatment

Due to the fact that epidermal blistering is a genetic disease, there is only symptomatic treatment, i.e. treatment of skin lesions, treatment of any infections.

You may also need to surgically separate the fused fingers.

In addition, the patient may need ophthalmic, ENT, dietary and dental care.

Category:

Genetic diseases