Epidermolysis Bullous Congenital Lethal

Lethal congenital epidermolysis bullosa (e. bullosa congenita letalis; Herlitz synonym malignant congenital epidermolysis bullosa) is a severe form of congenital epidermolysis bullosa, characterized by the formation of blisters from the first days of life, widespread damage to the skin and mucous membranes, a high risk of sepsis and death during the first months of life.

The disease is caused by mutations in genes encoding proteins responsible for the adhesion of the epidermis and dermis. This leads to disruption of their adhesion and the formation of bullous eruptions characteristic of epidermolysis.

Clinically, lethal congenital epidermolysis bullosa is manifested by the appearance in the first days of a child’s life of extensive erosions and ulcers on the skin, mucous membranes of the oral cavity, esophagus, and conjunctiva of the eyes. Skin damage leads to the development of sepsis, protein and fluid deficiency. Most children die before the age of 6 months from complications and infections.

Treatment is primarily symptomatic and aims to prevent infections, restore skin integrity, and maintain nutritional status. Effective methods of therapy have not yet been developed. The prognosis is unfavorable, and the disease is often fatal. Prenatal diagnosis and medical genetic counseling are of great importance for the early detection and prevention of this severe genetically determined dermatosis.

Congenital lethal epidermolysis bullosa (lethal congenital epidermal dystrophy) is a rare hereditary disease of the skin and mucous membranes associated with a disorder in the structure of the desmosomal filaggrin molecule. It causes destruction of the skin and, in some cases, the gastrointestinal tract. Due to the addition of a secondary bacterial infection and abscess formation, there is a threat of purulent melting of the skin. This form also affects the nervous system in the form of syringomyelia or polyneuropathy, which can cause disruption of the internal organs, including death,