Epidermolysis Bullous Congenital

Congenital epidermolysis bullosa (epidermolysis bullosa congenita; epidermis + Greek lysis decay, decomposition; synonym: Goldscheider's disease, Koebner's disease, congenital pemphigus, traumatic pemphigus) is a hereditary skin disease characterized by the appearance of congenital defects in the basement membrane of the skin. This leads to the formation of blisters and erosions on the skin and mucous membranes with minimal trauma.

The disease is caused by mutations in genes encoding basement membrane proteins. There are several subtypes of congenital epidermolysis bullosa depending on the depth of the lesion. The most severe forms are accompanied by extensive damage to the skin and mucous membranes, deformations and contractures, a high risk of infection and the development of malignant tumors.

Treatment is mainly symptomatic and is aimed at preventing infection and caring for affected skin areas. The search for effective treatments for epidermolysis bullosa congenita continues.

Epidermolysis is a severe hereditary skin disease characterized by the formation of blisters on the mucous membranes and areas of the skin that are constantly exposed to friction and injury, as well as increased vulnerability of the skin (especially the palms and soles). Epidermolysis is a manifestation of a group of hereditary disorders of keratinization (keratoses, which sometimes include hereditary diseases characterized by impaired formation of the stratum corneum of the skin).

Blisters can appear suddenly and cover large areas of the skin. The resulting secretion is a cloudy liquid and drains mixed with blood. Dermolysis can develop at any age, but is usually observed in the first two years of a child’s life.

The disease is divided into several types according to the nature of the lesion. One of them is represented by the bullous form of epidermolysis - epidermolysis bullosa. Leaf-shaped pustular and vesicular superficial forms are also distinguished. Epidermosis affects the skin, mucous membranes of both the upper and lower extremities. Depending on which layer of skin is affected, the form of the disease is determined. The epidermal type involves damage to the entire thickness of the dermis, the papillary type is characterized by the appearance of small blisters on the skin.