INNOVATIONS IN THE CLINICAL MANAGEMENT OF DYSTROPHIC EPIDERMOLYSIS BULLOSA
DOI:
https://doi.org/10.47820/recima21.v5i1.4773Keywords:
Clinical management, Epidermolysis Bullosa, Drug TherapyAbstract
Dystrophic epidermolysis bullosa is a rare and hereditary disease characterized by skin fragility, which causes blisters on the skin due to minor trauma or friction, which appear from birth. Its clinical management is mainly based on supportive treatment without the aim of curative measures. Therefore, this research emerges from the question: what are the updates in therapeutic management in the face of dystrophic epidermolysis bullosa? This study is an integrative literature review with a qualitative nature and an exploratory approach. To compose the study, after a careful analysis, 16 articles were selected. The main results highlighted some emerging therapies such as intradermal injection of fibroblasts, which has a tendency to maximize adherence at the dermal-epidermal junction, in addition to promoting the synthesis of type VII collagen. Furthermore, the use of gentamicin showed an improvement in wound healing, greater expression of type VII collagen and minimization of the formation of new blisters in these patients. Finally, the use of losartan, an antihypertensive that provides a reduction in TGF-β activity and if used in association with trametinib, has been shown to enhance its anti-inflammatory action, resulting in attenuation of blisters and improvement in nutritional status, with notable patient's clinical progress. Therefore, as these are new pharmacological therapies, further studies are still needed to confirm and further define the individuals with epidermolysis bullosa who will benefit from specific management according to the etiology of the disease, in addition to defining the dosage of the drugs under study.
Downloads
References
ATANASOVA, V. S. et al. Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. Journal of Investigative Dermatology, v. 137, n. 9, p. 1842–1849, 1 set. 2017. Disponível em: https://doi.org/10.1016/j.jid.2017.05.011. Acesso em: 12 jul. 2023. DOI: https://doi.org/10.1016/j.jid.2017.05.011
BOLTON, L. New Options to Manage Epidermolysis Bullosa. Wounds: a compendium of clinical research and practice, v. 34, n. 12, p. 297–299, 2022. Disponível em: https://doi.org/10.25270/wnds/22-297299. Acesso em: 12 jul. 2023. DOI: https://doi.org/10.25270/wnds/22-297299
CHAN, J. M. et al. Occupational therapy for epidermolysis bullosa: clinical practice guidelines. Orphanet Journal of Rare Diseases, v. 14, n. 1, 7 jun. 2019. Disponível em: https://doi.org/10.1186/s13023-019-1059-8. Acesso em: 15 dez. 2023. DOI: https://doi.org/10.1186/s13023-019-1059-8
COHN, H. I.; TENG, J. M. C. Advancement in management of epidermolysis bullosa. Current Opinion in Pediatrics, v. 28, n. 4, p. 507–516, ago. 2016. Disponível em: https://doi.org/10.1097/mop.0000000000000380. Acesso em: 12 jul. 2023. DOI: https://doi.org/10.1097/MOP.0000000000000380
GRETZMEIER, C. et al. Systemic Collagen VII Replacement Therapy for Advanced Recessive Dystrophic Epidermolysis Bullosa. Journal of Investigative Dermatology, v. 142, n. 4, p. 1094-1102.e3, 1 abr. 2022. Disponível em: https://doi.org/10.1016/j.jid.2021.09.008. Acesso em: 12 jul. 2023. DOI: https://doi.org/10.1016/j.jid.2021.09.008
HAS, C.; SOUTH, A.; UITTO, J. Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020. Molecular Diagnosis & Therapy, v. 24, n. 3, p. 299–309, 23 abr. 2020. Disponível em: https://doi.org/10.1007/s40291-020-00466-7. Acesso em: 12 jul. 2023. DOI: https://doi.org/10.1007/s40291-020-00466-7
HOU, P. et al. Investigational Treatments for Epidermolysis Bullosa. American Journal of Clinical Dermatology, v. 22, n. 6, p. 801–817, 22 jul. 2021. Disponível em: https://doi.org/10.1007/s40257-021-00626-3. Acesso em 15 ago. 2023. DOI: https://doi.org/10.1007/s40257-021-00626-3
INAMADAR, A. C. Losartan as disease modulating therapy for recessive dystrophic epidermolysis bullosa. Dermatologic Therapy, v. 33, n. 6, 5 set. 2020. Disponível em: https://doi.org/10.1111/dth.14279. Acesso em: 12 jul. 2023. DOI: https://doi.org/10.1111/dth.14279
JACKÓW, J. et al. Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bullosa using a Self-Inactivating COL7A1 Retroviral Vector. Journal of Investigative Dermatology, v. 136, n. 7, p. 1346–1354, 1 jul. 2016. Disponível em: https://doi.org/10.1016/j.jid.2016.02.811. Acesso em: 12 jul. 2023. DOI: https://doi.org/10.1016/j.jid.2016.02.811
KASPERKIEWICZ, M. et al. Epidermolysis Bullosa Acquisita: From Pathophysiology to Novel Therapeutic Options. Journal of Investigative Dermatology, v. 136, n. 1, p. 24–33, jan. 2016. Disponível em: https://doi.org/10.1038/JID.2015.356. Acesso em: 12 jul. 2023. DOI: https://doi.org/10.1038/JID.2015.356
KWONG, A. et al. Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations. Molecular Therapy, v. 28, n. 5, p. 1327-1338, 17 mar. 2020. Disponível em: https://doi.org/10.1016/j.ymthe.2020.03.006. Acesso em: 15 ago. 2023. DOI: https://doi.org/10.1016/j.ymthe.2020.03.006
MAHAJAN, R. et al. Topical Gentamicin 0.1% Promotes Collagen 7 Expression in Recessive Dystrophic Epidermolysis Bullosa. Indian Dermatology Online Journal, v. 13, n. 4, p. 480–483, 1 jul. 2022. Disponível em: https://doi.org/10.4103/idoj.idoj_554_21. Acesso em: 15 ago. 2023. DOI: https://doi.org/10.4103/idoj.idoj_554_21
MARINKOVICH, M. P.; TANG, J. Y. Gene Therapy for Epidermolysis Bullosa. Journal of Investigative Dermatology, v. 139, n. 6, p. 1221–1226, jun. 2019. Disponível em: https://doi.org/10.1016/j.jid.2018.11.036. Acesso em: 12 jul. 2023. DOI: https://doi.org/10.1016/j.jid.2018.11.036
OLDAKOVSKIY, V. I. et al. Our experience of using Losartan for esophageal stenosis in children with dystrophic form of congenital epidermolysis bullosa. Journal of Pediatric Surgery, v. 58, n. 4, p. 619–623, 1 abr. 2023. Disponível em: https://doi.org/10.1016/j.jpedsurg.2022.11.001. Acesso em: 12 jul. 2023. DOI: https://doi.org/10.1016/j.jpedsurg.2022.11.001
PRODINGER, C. et al. Epidermolysis bullosa: Advances in research and treatment. Experimental Dermatology, v. 28, n. 10, p. 1176–1189, 8 ago. 2019. Disponível em: https://doi.org/10.1111/exd.13979. Acesso em: 12 jul. 2023. DOI: https://doi.org/10.1111/exd.13979
TARTAGLIA, G. et al. Trametinib-Induced Epidermal Thinning Accelerates a Mouse Model of Junctional Epidermolysis Bullosa. Biomolecules, v. 13, n. 5, p. 740–740, 25 abr. 2023. Disponível em: https://doi.org/10.3390/biom13050740. Acesso em: 12 jul. 2023. DOI: https://doi.org/10.3390/biom13050740
UITTO, J.; VAHIDNEZHAD, H. Losartan for treatment of epidermolysis bullosa: A new perspective. Dermatologic Therapy, v. 34, n. 1, 25 dez. 2020. Disponível em: https://doi.org/10.1111/dth.14638. Acesso em: 12 jul. 2023. DOI: https://doi.org/10.1111/dth.14638
WOODLEY, D. T. et al. Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients. The Journal of Clinical Investigation, v. 127, n. 8, p. 3028–3038, 1 ago. 2017. Disponível em: https://doi.org/10.1172/JCI92707. Acesso em: 15 ago. 2023. DOI: https://doi.org/10.1172/JCI92707
ZHOU, A. G.; LITTLE, A. J.; ANTAYA, R. J. Epidermolysis bullosa pruriginosa treated with dupilumab. Pediatric Dermatology, v. 38, n. 2, p. 526–527, 18 dez. 2020. Disponível em: https://doi.org/10.1111/pde.14493. Acesso em: 12 jul. 2023. DOI: https://doi.org/10.1111/pde.14493
Downloads
Published
How to Cite
License
Copyright (c) 2024 RECIMA21 - Revista Científica Multidisciplinar - ISSN 2675-6218
This work is licensed under a Creative Commons Attribution 4.0 International License.
Os direitos autorais dos artigos/resenhas/TCCs publicados pertecem à revista RECIMA21, e seguem o padrão Creative Commons (CC BY 4.0), permitindo a cópia ou reprodução, desde que cite a fonte e respeite os direitos dos autores e contenham menção aos mesmos nos créditos. Toda e qualquer obra publicada na revista, seu conteúdo é de responsabilidade dos autores, cabendo a RECIMA21 apenas ser o veículo de divulgação, seguindo os padrões nacionais e internacionais de publicação.