Inherited epidermolysis bullosa

Lykova S.G.; Maksimova Iu.V.; Nemchaninova O.B.; Guseva S.N.; Omigov V.V.; Aidagulova S.V.

doi:https://doi.org/10.17116/patol201880454

Lykova S.G.

Novosibirsk State Medical University

Maksimova Iu.V.

Novosibirsk State Medical University

Nemchaninova O.B.

Novosibirsk state medical University Russian Ministry of Health, Novosibirsk, Russia, 630091

Guseva S.N.

I.I. Mechnikov Sankt-Peterburg State Medical Academy

Omigov V.V.

Novosibirsk State Medical University, Ministry of Health of Russia, Novosibirsk, Russia

Aidagulova S.V.

Novosibirsk State Medical University, Ministry of Health of Russia, Novosibirsk, Russia

Inherited epidermolysis bullosa

Authors:

Lykova S.G., Maksimova Iu.V., Nemchaninova O.B., Guseva S.N., Omigov V.V., Aidagulova S.V.

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Journal: Russian Journal of Archive of Pathology. 2018;80(4): 54‑60

DOI: 10.17116/patol201880454

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To cite this article:

Lykova SG, Maksimova IuV, Nemchaninova OB, Guseva SN, Omigov VV, Aidagulova SV. Inherited epidermolysis bullosa. Russian Journal of Archive of Pathology. 2018;80(4):54‑60. (In Russ.)
https://doi.org/10.17116/patol201880454

Подписка 2026 Архив патологии (Russian Journal of Archive of Pathology)

Использование инфографики авторами научных работ

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Abstract:

Objective — to summarize an update on epidermolysis bullosa as a polymorphic group of inherited diseases with a failure of epidermal-dermal integrity. Emphasis is placed on the role of transmission electron microscopy in diagnosis and search directions for new types of the abnormality and its molecular markers. Despite numerous mutations in the genes encoding the components of desmosomes and epithelial basement membrane, the stereotyped manifestations of pathological processes in the group of epidermolysis bullosa have been identified. The paper gives a positive result of cell and gene therapies used by European scientists in the treatment of a 7-year-old child with borderline epidermolysis bullosa, which opens up new prospects for patients with butterfly disease that has long been considered fatal.

Keywords:

inherited epidermolysis bullous

transmission electron microscopy

epidermocytes

desmosomes

epithelial basement membrane

molecular markers

Authors:

Lykova S.G.

Novosibirsk State Medical University

Maksimova Iu.V.

Novosibirsk State Medical University

Nemchaninova O.B.

Novosibirsk state medical University Russian Ministry of Health, Novosibirsk, Russia, 630091

Guseva S.N.

I.I. Mechnikov Sankt-Peterburg State Medical Academy

Omigov V.V.

Novosibirsk State Medical University, Ministry of Health of Russia, Novosibirsk, Russia

Aidagulova S.V.

Novosibirsk State Medical University, Ministry of Health of Russia, Novosibirsk, Russia

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