To the content
1 . 2023

Medical care for newborns with epidermolysis bullosa

Abstract

The article presents the experience of organizing medical care for newborns with the congenital epidermolysis bullosa at the National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, Ministry of Health of the Russian Federation, in cooperation with the Charitable Foundation “BELA. Butterfly children”. As part of a joint project, a system of staged care for newborns with epidermolysis bullosa has been developed and implemented in all regions of the Russian Federation. The capabilities of the National Center make it possible to combine high-quality medical care for patients with epidermolysis bullosa with scientific research.

During the period of the newborn’s stay in the hospital, an individual treatment plan is developed. Comprehensive examination, molecular genetic diagnosis, symptomatic treatment of epidermolysis bullosa, and treatment of concomitant diseases are carried out.

Teaching the mothers basic care, accompanying the patient by a doctor-expert of the Butterfly Children Charitable Foundation, to providing versatile charitable assistance, and informational support will be an additional positive psychological factor for the family. Early onset of proper care and treatment improves skin condition, reduces the risk of complications, and improves quality of life.

Keywords:epidermolysis bullosa; newborns

Funding. The study had no sponsor support.

Conflict of interest. The authors declare no conflict of interest.

For citation: Ryumina I.I., Marycheva N.M., Silachev D.N., Kotalevskaya Yu.Yu., Narogan M.V., Orlovskaya I.V., Bolshakova A.S., Perepyolkina A.E., Zubkov V.V., Sukhikh G.T. medical care for newborns with epidermolysis bullosa. Neonatologiya: novosti, mneniya, obuchenie [Neonatology: News, Opinions, Training]. 2023; 11 (1): 57–64. DOI: https://doi.org/10.33029/2308-2402-2023-11-1-57-64 (in Russian)

Received 11.01.2023. Accepted 06.02.2023.

References

1. https://eur-lex.europa.eu/EN/legal-content/summary/medicines-for-

rare-diseases-orphan-drugs.html

2. Laimer M., Pohla-Gubo G., Diem A., Prodinger C., Bauer J.W., Hintner H. Epidermolysis bullosa House Austria and Epidermolysis bullosa clinical network: Example of a centre of expertise implemented in a European reference network to face the burden of a rare disease. Wien Klin Wochenschr. 2017; 129 (1-2): 1–7. DOI: https://doi.org/10.1007/s00508-016-1133-3

3. Lucky A.W., Whalen J., Rowe S., Marathe K.S., Gorell E. Diagnosis and care of the newborn with epidermolysis bullosa. Neoreviews. 2021; 22 (7): e438–51. DOI: https://doi.org/10.1542/neo.22-7-e438

4. https://www.debra-international.org

5. https://www.deti-bela.ru/patients

6. Has C., Bauer J.W., Bodemer C., Bolling M.C., Bruckner-Tuderman L., Diem A., et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020; 183 (4): 614–27. DOI: https://doi.org/10.1111/bjd.18921; PMID: 32017015.

7. Bardhan A., Bruckner-Tuderman L., Chapple I.L.C., Fine J.D., Harper N., Has C., et al. Epidermolysis bullosa. Nat Rev Dis Primers. 2020; 6 (1): 78. DOI: https://doi.org/10.1038/s41572-020-0210-0; PMID: 32973163.

8. Yuen W.Y., Duipmans J.C., Molenbuur B., Herpertz I., Mandema J.M., Jonkman M.F. Long-term follow-up of patients with Herlitz-type junctional epidermolysis bullosa. Br J Dermatol. 2012; 167 (2): 374–82. DOI: https://doi.org/10.1111/j.1365-2133.2012.10997x; PMID: 22512697.

9. Tang J.Y., Marinkovich M.P., Lucas E., Gorell E., Chiou A., Lu Y., et al. A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa. Orphanet J Rare Dis. 2021; 16 (1): 175. DOI: https://doi.org/10.1186/s13023-021-01811-7; PMID: 33849616.

10. Eng V.A., Solis D.C., Gorell E.S., Choi S., Nazaroff J., Li S., et al. Patient-reported outcomes and quality of life in recessive dystrophic epidermolysis bullosa: A global cross-sectional survey. J Am Acad Dermatol. 2021; 85 (5): 1161–7. DOI: https://doi.org/10.1016/j.jaad.2020.03.028; PMID: 32199895.

11. Fine J.D., Mellerio J.E. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol. 2009; 61 (3): 367–84; quiz 385–6. DOI: https://doi.org/10.1016/j.jaad.2009.03.052; PMID: 19700010

12. Retrosi C., Diociaiuti A., De Ranieri C., Corbeddu M., Carnevale C., Giancristoforo S., et al. Multidisciplinary care for patients with epidermolysis bullosa from birth to adolescence: experience of one Italian reference center. Ital J Pediatr. 2022; 48 (1): 58. DOI: https://doi.org/10.1186/s13052-022-01252-3; PMID: 35414096.

13. El Hachem M., Zambruno G., Bourdon-Lanoy E., Ciasulli A., Buisson C., Hadj-Rabia S., et al. Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis. 2014; 9: 76. DOI: https://doi.org/10.1186/1750-1172-9-76; PMID: 24884811.

14. Vanden Oever M., Twaroski K., Osborn M., et al. Inside out: regenerative medicine for recessive dystrophic epidermolysis bullosa. Pediatr Res. 2018; 83: 318–24. DOI: https://doi.org/10.1038/pr.2017.244

15. El-Darouti M., Fawzy M., Amin I., Abdel Hay R., Hegazy R., Gabr H., El Maadawi Z. Treatment of dystrophic epidermolysis bullosa with bone marrow non-hematopoeitic stem cells: a randomized controlled trial. Dermatol Ther. 2016; 29 (2): 96–100. DOI: https://doi.org/10.1111/dth.12305; PMID: 26439431.

16. Uitto J., Bruckner-Tuderman L., McGrath J.A., Riedl R., Robinson C. EB2017-progress in epidermolysis bullosa research toward treatment and cure. J Invest Dermatol. 2018; 138 (5): 1010–6. DOI: https://doi.org/10.1016/j.jid.2017.12.016, PMID: 29391251.

17. Petrof G., Lwin S.M., Martinez-Queipo M., Abdul-Wahab A., Tso S., Mellerio J.E., et al. Potential of systemic allogeneic mesenchymal stromal cell therapy for children with recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2015; 135 (9): 2319–21. DOI: https://doi.org/10.1038/jid.2015.158; PMID: 25905587.

All articles in our journal are distributed under the Creative Commons Attribution 4.0 International License (CC BY 4.0 license)

CHIEF EDITOR
CHIEF EDITOR
Degtyarev Dmitriy Nikolaevich
Doctor of Medical Sciences, Professor, Deputy Director for Scientific Research of the V.I. Kulakov Obstetrics, Gynecology and Perinatology National Medical Research Center of Ministry of Healthсаre of the Russian Federation, Head of the Chair of Neonatology at the Clinical Institute of Children's Health named after N.F. Filatov, I.M. Sechenov First Moscow State Medical University, Chairman of the Ethics Committee of the Russian Society of Neonatologists, Moscow, Russian Federation

ORCID iD 0000-0001-8975-2425

Journals of «GEOTAR-Media»