Epidemiology of inherited epidermolysis bullosa in the Russian Federation

Relevance. Inherited epidermolysis bullosa (EB) is a rare hereditary skin disease characterized by blister formation and the development of disabling deformities. Objective. To study the prevalence of EB among the population of the Russian Federation (RF) in 2024. Materials and Methods. Information on the EB patients was obtained through a written request from the chief freelance specialist in dermatovenereology and cosmetology of the Ministry of Health of the RF, Prof. Potekaev N.N., President of the National Alliance of Dermatovenereologists and Cosmetologists (NADC), to medical organizations of dermatovenereological profile in constituent entities of the RF. Results. Information on EB patients was obtained from 85 constituent RF-entities. 1.088 EB patients aged 0 to 65 years were identified. Simple EB was diagnosed in 56.5% patients, dystrophic EB in 27.3%, lethal EB in 0.4%, undetermined EB in 8.4%, and “other” EB in 7.4% people. The average prevalence of EB in the RF was 7.4 cases per 1 million populations, among children from 0 to 17 years — 21.3 per 1 million children. The provision of disabled people with medications and dressings in the RF averages 82%, with variations across regions from 50 to 100%. Conclusion. The obtained information will form the basis of a registry of patients with epidermolysis bullosa in the Russian Federation, being formed by the NADC. Their monitoring, statistical processing, and analysis will allow assessment of health status, medical and social characteristics of patients, and their provision with necessary medical care.