Generalized hereditary borderline epidermolysis bullosa (Clinical case)
Year: 2025, volume 21 Issue: №1 Pages: 50-56
Heading: Pediatrics Article type: Case report
Authors: Nechaev V.N., Chernenkov Yu.V., Vologina A.P.
Organization: Saratov State Medical University
Heading: Pediatrics Article type: Case report
Authors: Nechaev V.N., Chernenkov Yu.V., Vologina A.P.
Organization: Saratov State Medical University
Summary:
The features of the clinical picture and diagnosis of congenital Epidermolysis bullosa in a newborn girl born in a closely related marriage (parents are cousins) are described. Among the features of the clinic, it should be noted the rapid increase in damage to the skin and mucous membranes during the first 10 days of life and the weak ability of damaged tissues to epithelize and heal. Genetic analysis of the blood and skin of a sick child made it possible to clarify the type of congenital hereditary disease, to detail the mutation of the corresponding genes and to clarify the prognosis of the disease.
Bibliography:
1. Murashkin NN, Namazova-Baranova LS, eds. Epider-molysis bullosa: A guide for doctors. Moscow: Pediatrician, 2019; 443 p.
2. KubanovAA, KaramovaAE, Chikin VV, et al. Epidemiology and the state of medical care for patients with congenital Epider-molysis bullosa in the Russian Federation. Bulletin of the Russian Academy of Sciences. 2018;6:420-30. DOI:10.15690/vramn980
3. Albanova VI, Golchenko VA. Hereditary bullous epi-dermolysis. Modern concepts of the etiology and pathogenesis. Rossiiskii Zhurnal Kozhnykh i Venericheskikh Boleznei. 2013;2:15-20.
4. Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited Epidermolysis bullosa: Updated recommedations on diagnosis and classification. J Am Acad Dermatol. 2014;70 (6):1103-26. DOM 0.1016/j.jaad.2014.01.903
5. Usupova LA. Immunopathology of chronic dermatoses. Kazan: NB KGMA, 2017; 108 p.
6. Fine JD, Hintner НТ. Life with Epidermolysis bullosa (EB): Etiology, diagnosis, multidisciplinary care and therapy. New York: Springer, 2009: 359 p.
7. Garaeva ZSh, Yusupova LA, Mavlyutova Gl, et al. Epidermolysis bullosa. In: Kazan Dermatology Readings: Synthesis of Science and Practice: Proceedings of the All-Russian Scientific and Practical Conference with International Participation. Kazan: Algorithm+, 2016; p. 8-20.
8. Gadzhimuradov MN, Gadzhimuradova KM, Aliyeva MG, Mamasheva GD. Congenital Epidermolysis bullosa. Clinical features and own observations. Clinical Dermatology and Venere-ology. 2020;5:647-54. DOI:10.17116/klinderma202019051647
9. Kubanov A, Albanova V, Chikin V, Epishev R. Modern methods of therapy of congenital Epidermolysis bullosa. Bulletin of Dermatology and Venereology. 2014; (6):47-56.
10. Has С, Bauer JW, Bodemer С, et al. Consensus re-classification of inherited Epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020;183(4):614-27. DOI:10.1111/bjd.18921
11. Congenital Epidermolysis bullosa. Clinical recommendations. The Union of Pediatricians of Russia. Moscow, 2020; 65 p.
12. Federal clinical recommendations for the management of patients with congenital Epidermolysis bullosa. Russian Society of Dermatovenerologists and Cosmetologists. Moscow, 2015; 82 p.
13. Fine JD, Hintner Н, eds. Epidermolysis bullosa. Moscow: Praktika, 2014; 357 p.
14. Makarova SG, Namazova-Baranova LS, Murashkin NN, et al. Of nutritional status in complex therapy for children suffering from dystrophic forms of innate Epidermolysis bullosa. Pediatricheskaya farmakologiya = Pediatric Pharmacology. 2016;13 (6):577-86.
15. Shved AD, Tourovets AN. Epidermolysis bullosa: Approaches of gene and cell therapy. Kletochnaya Transplantologiya i Tkanevaya Inzheneriya. 2011 ;4 (4):21-5.
| Attachment | Size |
|---|---|
| 2025_01_050-056.pdf | 1.87 MB |
Русский
English