Репозиторий Университета

© 2018 Hubail et al. Purpose: The aim of this study was to evaluate the progression of a case of a patient with epidermolysis bullosa (EB) since early age who survived to adulthood, presenting with recurrent skin blisters and disfiguring scars and disabling musculoskeletal deformities. Background: EB is a rare group of inherited diseases that affect the skin fragility causing it to blister in response to even minor trauma. Established novel treatments are limited in the literature due to its rarity, and more research is needed to set a global management approach. Clinical manifestations range widely from localized to generalized blistering. Methods: A rare case of EB surviving to adulthood despite the complications, which has been evaluated, treated during a relapse, and followed up. Conclusion: The described case is of considerable clinical interest due to its rarity and severity. Optimal management requires a multidisciplinary approach and revolves around the protection of the skin against slightest injury, use of careful wound care dressings, aggressive nutritional support, and early medical or surgical interventions if needed to manage any complications. Prognosis varies considerably depending on each case.

© 2019, Privolzhsky Research Medical University. All rights reserved. The study of the epidermis and derma histogenesis, including its epigenetic regulation, is an actively developing field of histology and embryology. The results of the study can elucidate the mechanisms of pathogenesis of some skin diseases of unknown etiology. Wnt signaling is a key regulator of the main morphogenetic processes — cell proliferation and differentiation. Downstream of Wnt signaling is carried out by canonical and non-canonical pathways. Impairments of Wnt signaling in prenatal and postnatal development lead to degenerative and tumor diseases of the skin and hair. Clinical manifestations of the prenatal disorders of skin development epigenetic regulation in the period may appear long after the birth. Identification of factors that disturb the regulation of morphogenetic processes is an important task for investigators. It was found out that activation of the mother’s immune system in the early pregnancy resulted in the development of transient alopecia in the offspring of mice. There was the correlation established between the disorders of epidermal and dermal histogenesis and alopecia as well as the development of regional dysmorphogenetic changes in the skin, which indicate the need to study the rates and features of skin development in various parts of the body.