Epidermolysis Bullous Congenital Belopapuloid

Epidermolysis Bullous Congenital Belopapuloid: features of the disease

Epidermolysis bullosa congenita belopapuloid (EBVA) is a rare inherited disease that is characterized by the formation of blisters and ulcers on the skin and mucous membranes. It is also known as Pasini belopapuloid epidermolysis bullosa congenita, and belongs to the group of epidermolysis bullosa congenita (EB), which causes a disorder of the skin structure.

EBVA is inherited as an autosomal recessive inheritance pattern, which means that the disease occurs only if a child inherits two copies of the altered gene, one from each parent. In this case, both parents may be carriers of the mutation but not show signs of the disease.

Clinical manifestations of EBVA can range from a mild form, which involves only a few blisters on the skin, to a severe form, which can result in the formation of multiple blisters, ulcers, and scars. The blisters can be located on any part of the skin, including the mucous membranes of the mouth, eyes, genitals and intestines. Patients with EBVA may also experience digestive problems, and some may have developmental delays.

Diagnosis of EBVA requires histopathological examination of biopsy material. Genetic testing may also be performed to identify mutations in the gene responsible for the development of the disease.

There is currently no specific therapy for EBVA, and treatment is aimed at relieving symptoms and keeping the skin and mucous membranes clean and dry to prevent infections. If infection is present, antibiotics may be used. Surgery may also be performed to remove large blisters and scars.

In conclusion, epidermolysis bullosa congenita belopapuloid is a rare and severe hereditary disease that requires a comprehensive approach to treatment and patient care. Early diagnosis and appropriate treatment can improve the prognosis of the disease and the quality of life of patients.

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Epidermolysis is a pathological condition of the stratum corneum of the skin in the form of multiple blisters due to various defects in the epidermis-dermal junction.

The belopapuloid form of congenital epidermolysis bullosa is one of the rarest genetic skin diseases. This form occurs in 2 percent of patients suffering from epidermolysis bullosa. In the medical literature, it is known as pachyneplasia - this is hyperophia of the epidermis with accelerated cell maturation, leading to the formation of blisters, cysts and sebaceous glands. When they are opened, a thick white liquid containing sebum is released, which gives the name to this form of epidermolysis.

Manifestations of pachyenoplasia are characterized by the formation of a large number of white