Epidermolysis Bullous Congenital Polydysplastic

Congenital polydysplastic epidermolysis bullosa is a hereditary skin disease manifested by pemphigus on the legs, hands and chest of a child, as well as changes in other organs and systems.

**Etiology.**

The disease is a rare genetically determined pathology and is caused by a mutation in the COL7A1 gene. Histologically, a violation of the structure of proteoglycans, accumulation of hyaluronic acid and loss of type 7 collagen are revealed. The disease is inherited in an autosomal dominant manner with incomplete penetrance. The type of linkage to the COL 6 A2 gene is detected. The disease affects people with fetal damage with the development of congenital heart disease in the presence of hydrocephalus with atrophy of the optic nerves.

The disease is characterized by concomitant heart defects and patent ductus arteriosus. The prognosis of the disease is unfavorable with

Congenital polydyspastic epidermolysis bullosa (E. bullosa congenita polydyspastica) is a rare hereditary disease characterized by the formation of blisters on the mucous membranes and skin, which arise as a result of dysplastic changes in the skin in different parts of the body. The incidence of the disease is about 1 case in 8250 – 14488 male newborns [2].

The disease is inherited in an autosomal dominant manner with a phenotypical penetrance of more than 75%. Most cases are inherited with incomplete penetrance as a “hot” variant causing blisters [3]. In females, manifestations of congenital epidermolysis bullosa are observed extremely rarely, perhaps due to the fact that women have an embryological primordial barrier that prevents the growth of the base