Generalized congenital epidermolysis bullosa of the borderline type (clinical case)

The features of the clinical picture and diagnosis of congenital Epidermolysis bullosa in a newborn girl born in a closely related marriage (parents are cousins) are described. Among the features of the clinic, it should be noted the rapid increase in damage to the skin and mucous membranes during the first 10 days of life and the weak ability of damaged tissues to epithelize and heal. Genetic analysis of the blood and skin of a sick child made it possible to clarify the type of congenital hereditary disease, to detail the mutation of the corresponding genes and to clarify the prognosis of the disease.