Epidermolysis bullosa
Keywords:
epidermolysis bullosa, clinical picture, therapy, treatment, Vyuvek
Abstract
Epidermolysis bullosa (EB) is a hereditary multisystemic disease caused by genetic defects in the structural proteins of the skin. Depending on the type of disease, symptoms vary from localized fragility and bullae to a widespread generalized form, including extracutaneous disease. In the most severe forms, EB leads to death in the earliest period of life. The treatment of EB is complex and usually requires the involvement of several different specialists. In the absence of curative therapy, treatment is oriented towards supportive care, control of disease symptoms and prevention of mild to severe complications. A new hope for the treatment of wounds in patients with dystrophic form of EB, older than 6 months, is vector gene therapy Vyjuvek (beremagene geperpavec) based on herpes simplex virus type 1.
References
1. Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, et al. Epidermolysis bullosa. Nat Rev Dis Primers. 2020;6(1):78. doi: 10.1038/s41572-020-0210-0.
2. Fine JD, Mellerio JE. 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: 10.1016/j.jaad.2009.03.052.
3. Dhandapani JP. Butterfly Children/Epidermolysis Bullosa. Pon J Nurs. 2021; 14 (3):66-8. doi: 10.5005/jp-journals-10084-13106.
4. Pânzaru M-C, Caba L, Florea L, Braha EE, Gorduza EV. Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity. Diagnostics. 2022; 12(6):1325. doi: 10.3390/diagnostics12061325.
5. Snelson K. Managing wounds in patients with epidermolysis bullosa. Wounds UK. 2020; 16(4):30-5.
6. Fine JD. Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry. JAMA Dermatol. 2016;152(11):1231-8. doi: 10.1001/jamadermatol.2016.2473.
7. Petrof G, Papanikolaou M, Martinez AE, Mellerio JE, McGrath JA, Bardhan A, et al. The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database. Br J Dermatol. 2022;186(5):843-8. doi: 10.1111/bjd.20958.
8. Kotalevskaya YY, Stepanov VA. Molecular genetic basis of epidermolysis bullosa. Vavilovskii Zhurnal Genet Selektsii. 2023;27(1):18-27. doi: 10.18699/VJGB-23-04.
9. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al. (Eds.). GeneReviews®. University of Washington, Seattle, Seattle (WA), 2016, pp. 1993-2018.
10. Rafei-Shamsabadi D, Scholten L, Lu S, Castiglia D, Zambruno G, Volz A, et al. Epidermolysis-Bullosa-Associated Squamous Cell Carcinomas Support an Immunosuppressive Tumor Microenvironment: Prospects for Immunotherapy. Cancers. 2024; 16(2):471. doi:10.3390/cancers16020471.
11. Condrat I, He Y, Cosgarea R, Has C. Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine. Front Med (Lausanne). 2019;5:363. doi: 10.3389/fmed.2018.00363.
12. Tayem R, Niemann C, Pesch M, Morgner J, Niessen CM, Wickström SA, et al. Laminin 332 Is Indispensable for Homeostatic Epidermal Differentiation Programs. J Invest Dermatol. 2021;141(11):2602-10.e3. doi: 10.1016/j.jid.2021.04.008.
13. Baardman R, Bremer J, Diercks GFH, Jan SZ, Lemmink HH, Bolling MC, et al. Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa. J Eur Acad Dermatol Venereol. 2021;35(9):e597-e600. doi:10.1111/jdv.17328.
14. Pfendner EG, Lucky AW. Dystrophic Epidermolysis Bullosa. 2006 Aug 21 [Updated 2018 Sep 13]. In: Adam MP, Feldman J, Mirzaa GM, et al, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1304/
15. Youssefian L, Vahidnezhad H, Uitto J. Kindler Syndrome. 2016 Mar 3 [Updated 2022 Jan 6]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK349072/
16. Has C, Bauer JW, Bodemer C, Bolling MC, 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: 10.1111/bjd.18921.
17. Pustišek N, Kljenak A, Karaman Ilić M i sur. Novosti u klasifikaciji, dijagnostici i terapiji nasljednih buloznih epidermoliza. Paediatr Croat. 2005; 49: 113-7.
18. Saad R, Duipmans J, Yerlett N, Plevey K, McCuaig C, Woolfe W, et al. Neonatal epidermolysis bullosa: a clinical practice guideline. British Journal of Dermatology. 2024; 190(5): 636–56. doi: 10.1093/bjd/ljae006.
19. Rao R, Shetty VM. Utility of Immunofluorescence Antigen Mapping in Hereditary Epidermolysis Bullosa. Indian J Dermatol. 2021;66(4):360-5. doi: 10.4103/ijd.IJD_131_20.
20. Mariath LM, Kiszewski AE, Frantz JA, Siebert M, Matte U, Schuler-Faccini L. Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach. An Bras Dermatol. 2021;96(2):155-62. doi: 10.1016/j.abd.2020.05.015.
21. Mariath LM, Santin JT, Schuler-Faccini L, Kiszewski AE. Inherited epidermolysis bullosa: update on the clinical and genetic aspects. An Bras Dermatol. 2020;95(5):551-69. doi: 10.1016/j.abd.2020.05.001.
22. Sait H, Srivastava S, Saxena D. Integrated Management Strategies for Epidermolysis Bullosa: Current Insights. Int J Gen Med. 2022;15:5133-44. doi: 10.2147/IJGM.S342740. Erratum in: Int J Gen Med. 2022;15:5807-8.
23. Mellerio JE. Infection and colonization in epidermolysis bullosa. Dermatol Clin. 2010;28(2):267-9, ix. doi:10.1016/j.det.2010.01.004.
24. Margulies S, Marion T, Saikaly SK. Use of Potent Topical Corticosteroids (TCS) for Hypergranulation Tissue (HGT) in Pediatric Patients. Cureus. 2022;14(8):e28304. doi:10.7759/cureus.28304.
25. Bonamonte D, Filoni A, De Marco A, Lospalluti L, Nacchiero E, Ronghi V, et al. Squamous Cell Carcinoma in Patients with Inherited Epidermolysis Bullosa: Review of Current Literature. Cells. 2022;11(8). doi: 10.3390/cells11081365.
26. Pabón-Carrasco M, Caceres-Matos R, Roche-Campos M, Hurtado-Guapo MA, Ortiz-Romero M, Gordillo-Fernández LM, et al. Management of Skin Lesions in Patients with Epidermolysis Bullosa by Topical Treatment: Systematic Review and Meta-Analysis. Healthcare. 2024; 12(2):261. doi:10.3390/healthcare12020261.
27. Guide SV, Gonzalez ME, Bağcı IS, Agostini B, Chen H, Feeney G, er al. Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa. N Engl J Med. 2022;387(24):2211-9. doi:10.1056/NEJMoa2206663.
28. Haft MA, Park HH, Lee SS, Sprague JM, Paller AS, Cotton CH, et al. Diagnosis and Management of Pediatric Chronic Hand Eczema: The PeDRA CACHES Survey. Paediatr Drugs. 2023;25(4):459-66. doi:10.1007/s40272-023-00574-x.
29. Jensen JD, Resnick SD. Porphyria in childhood. Semin Dermatol. 1995;14(1):33-9. doi: 10.1016/s1085-5629(05)80037-9
30. Hammers CM, Stanley JR. Mechanisms of Disease: Pemphigus and Bullous Pemphigoid. Annu Rev Pathol. 2016;11:175-97. doi:10.1146/annurev-pathol-012615-044313
31. Odonwodo A, Vashisht P. Bullous Systemic Lupus Erythematosus. [Updated 2023 May 22]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan. Available from: https://www.ncbi.nlm.nih.gov/books/NBK557445/
32. Xie F, Lehman JS. Bullous Tinea Pedis. Mayo Clin Proc. 2022;97(7):1396-7. doi:10.1016/j.mayocp.2022.05.007
33. Schiller S, Seebode C, Hennies HC, Giehl K, Emmert S. Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease. J Dtsch Dermatol Ges. 2014;12(9):781-8. doi:10.1111/ddg.12418
34. Kim JH, Kim SC. Epidermolysis bullosa acquisita. J Eur Acad Dermatol Venereol. 2013;27(10):1204-13. doi:10.2340/00015555-1065
35. Taj FT, Sajjan VV, Singh D. Ehlers-Danlos syndrome. Indian Dermatol Online J. 2014;5(Suppl 1):S68-70. doi: 10.4103/2229-5178.144554
36. Robertson SJ, Orrin E, Lakhan MK, O'Sullivan G, Felton J, Robson A, et al. Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study. Acta Derm Venereol. 2021;101(8):adv00523. doi:10.2340/00015555-3875
37. Polizzi A, Santonocito S, Patini R, Quinzi V, Mummolo S, Leonardi R, et al. Oral Alterations in Heritable Epidermolysis Bullosa: A Clinical Study and Literature Review. Biomed Res Int. 2022;2022:6493156. doi:10.1155/2022/6493156
38. Fantauzzi RS, Maia MO, Cunha FC, Simões RV, Gonçalves DU, Maia AF. Otorhinolaryngological and esophageal manifestations of epidermolysis bullosa. Braz J Otorhinolaryngol. 2008;74(5):657-61. doi:10.1016/S1808-8694(15)31373-2
39. Salera S, Tadini G, Rossetti D, Grassi FS, Marchisio P, Agostoni C, et al. A nutrition-based approach to epidermolysis bullosa: Causes, assessments, requirements and management. Clin Nutr. 2020;39(2):343-52. doi:10.1016/j.clnu.2019.02.023
40. Reimer A, Hess M, Schwieger-Briel A, Kiritsi D, Schauer F, Schumann H, et al. Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study. Br J Dermatol. 2020;182(6):1437-48. doi:10.1111/bjd.18475
41. Chen JS, Yang A, Murrell DF. Prevalence and pathogenesis of osteopenia and osteoporosis in epidermolysis bullosa: An evidence-based review [published correction appears in Exp Dermatol. 2020;29(6):575]. Exp Dermatol. 2019;28(10):1122-1130. doi:10.1111/exd.13771
42. Khan MT, O'Sullivan M, Faitli B, Mellerio JE, Fawkes R, Wood M, et al. Foot care in epidermolysis bullosa: evidence-based guideline. Br J Dermatol. 2020;182(3):593-604. doi: 10.1111/bjd.18381
43. Bachir Y, Daruich A, Marie C, Robert MP, Bremond-Gignac D. Eye Involvement and Management in Inherited Epidermolysis Bullosa. Drugs. 2022;82(12):1277-85. doi:10.1007/s40265-022-01770-8
44. Cicek N, Yildiz N, Asadov R, Yucelten AD, Tugtepe H, Alpay H. Kidney and Urinary Tract Involvement in Epidermolysis Bullosa: Is Routine Follow-Up Necessary? Dermatol Pract Concept. 2021;11(3):e2021051. doi:10.5826/dpc.1103a51
45. Małecki M, Domański M, Ciechanowski K. End-stage kidney disease in patient with epidermolysis bullosa - what are the treatment options? - case report. BMC Nephrol. 2017;18(1):193. doi: 10.1186/s12882-017-0606-6
46. Steinkampf MP, Reilly SD, Ackerman GE. Vaginal agglutination and hematometra associated with epidermolysis bullosa. Obstet Gynecol. 1987;69(3 Pt 2):519-21.
47. Fine JD, Hall M, Weiner M, Li KP, Suchindran C. The risk of cardiomyopathy in inherited epidermolysis bullosa. Br J Dermatol. 2008;159(3):677-82. doi: 10.1111/j.1365-2133.2008.08697.x
48. Devergne C, Demirtas S, Gauvin Y, Bellon N, Chiaverini C, Misery L, et al. Laryngeal stenosis associated with epidermolysis bullosa simplex. JAAD Case Rep. 2020;6(5):465-7. doi: 10.1016/j.jdcr.2020.02.033
49. Alstrup M, Marks SD, Ek J, Buchvald F, Lund TK, Perch M, et al. First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood. Eur J Med Genet. 2021;64(11):104335. doi: 10.1016/j.ejmg.2021.104335
50. Soon K, Mason R, Martinez AE, Mellerio JE. The psychological functioning of children with epidermolysis bullosa and its relationship with specific aspects of disease. Br J Dermatol. 2020;182(3):789-90.
2. Fine JD, Mellerio JE. 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: 10.1016/j.jaad.2009.03.052.
3. Dhandapani JP. Butterfly Children/Epidermolysis Bullosa. Pon J Nurs. 2021; 14 (3):66-8. doi: 10.5005/jp-journals-10084-13106.
4. Pânzaru M-C, Caba L, Florea L, Braha EE, Gorduza EV. Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity. Diagnostics. 2022; 12(6):1325. doi: 10.3390/diagnostics12061325.
5. Snelson K. Managing wounds in patients with epidermolysis bullosa. Wounds UK. 2020; 16(4):30-5.
6. Fine JD. Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry. JAMA Dermatol. 2016;152(11):1231-8. doi: 10.1001/jamadermatol.2016.2473.
7. Petrof G, Papanikolaou M, Martinez AE, Mellerio JE, McGrath JA, Bardhan A, et al. The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database. Br J Dermatol. 2022;186(5):843-8. doi: 10.1111/bjd.20958.
8. Kotalevskaya YY, Stepanov VA. Molecular genetic basis of epidermolysis bullosa. Vavilovskii Zhurnal Genet Selektsii. 2023;27(1):18-27. doi: 10.18699/VJGB-23-04.
9. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al. (Eds.). GeneReviews®. University of Washington, Seattle, Seattle (WA), 2016, pp. 1993-2018.
10. Rafei-Shamsabadi D, Scholten L, Lu S, Castiglia D, Zambruno G, Volz A, et al. Epidermolysis-Bullosa-Associated Squamous Cell Carcinomas Support an Immunosuppressive Tumor Microenvironment: Prospects for Immunotherapy. Cancers. 2024; 16(2):471. doi:10.3390/cancers16020471.
11. Condrat I, He Y, Cosgarea R, Has C. Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine. Front Med (Lausanne). 2019;5:363. doi: 10.3389/fmed.2018.00363.
12. Tayem R, Niemann C, Pesch M, Morgner J, Niessen CM, Wickström SA, et al. Laminin 332 Is Indispensable for Homeostatic Epidermal Differentiation Programs. J Invest Dermatol. 2021;141(11):2602-10.e3. doi: 10.1016/j.jid.2021.04.008.
13. Baardman R, Bremer J, Diercks GFH, Jan SZ, Lemmink HH, Bolling MC, et al. Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa. J Eur Acad Dermatol Venereol. 2021;35(9):e597-e600. doi:10.1111/jdv.17328.
14. Pfendner EG, Lucky AW. Dystrophic Epidermolysis Bullosa. 2006 Aug 21 [Updated 2018 Sep 13]. In: Adam MP, Feldman J, Mirzaa GM, et al, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1304/
15. Youssefian L, Vahidnezhad H, Uitto J. Kindler Syndrome. 2016 Mar 3 [Updated 2022 Jan 6]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK349072/
16. Has C, Bauer JW, Bodemer C, Bolling MC, 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: 10.1111/bjd.18921.
17. Pustišek N, Kljenak A, Karaman Ilić M i sur. Novosti u klasifikaciji, dijagnostici i terapiji nasljednih buloznih epidermoliza. Paediatr Croat. 2005; 49: 113-7.
18. Saad R, Duipmans J, Yerlett N, Plevey K, McCuaig C, Woolfe W, et al. Neonatal epidermolysis bullosa: a clinical practice guideline. British Journal of Dermatology. 2024; 190(5): 636–56. doi: 10.1093/bjd/ljae006.
19. Rao R, Shetty VM. Utility of Immunofluorescence Antigen Mapping in Hereditary Epidermolysis Bullosa. Indian J Dermatol. 2021;66(4):360-5. doi: 10.4103/ijd.IJD_131_20.
20. Mariath LM, Kiszewski AE, Frantz JA, Siebert M, Matte U, Schuler-Faccini L. Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach. An Bras Dermatol. 2021;96(2):155-62. doi: 10.1016/j.abd.2020.05.015.
21. Mariath LM, Santin JT, Schuler-Faccini L, Kiszewski AE. Inherited epidermolysis bullosa: update on the clinical and genetic aspects. An Bras Dermatol. 2020;95(5):551-69. doi: 10.1016/j.abd.2020.05.001.
22. Sait H, Srivastava S, Saxena D. Integrated Management Strategies for Epidermolysis Bullosa: Current Insights. Int J Gen Med. 2022;15:5133-44. doi: 10.2147/IJGM.S342740. Erratum in: Int J Gen Med. 2022;15:5807-8.
23. Mellerio JE. Infection and colonization in epidermolysis bullosa. Dermatol Clin. 2010;28(2):267-9, ix. doi:10.1016/j.det.2010.01.004.
24. Margulies S, Marion T, Saikaly SK. Use of Potent Topical Corticosteroids (TCS) for Hypergranulation Tissue (HGT) in Pediatric Patients. Cureus. 2022;14(8):e28304. doi:10.7759/cureus.28304.
25. Bonamonte D, Filoni A, De Marco A, Lospalluti L, Nacchiero E, Ronghi V, et al. Squamous Cell Carcinoma in Patients with Inherited Epidermolysis Bullosa: Review of Current Literature. Cells. 2022;11(8). doi: 10.3390/cells11081365.
26. Pabón-Carrasco M, Caceres-Matos R, Roche-Campos M, Hurtado-Guapo MA, Ortiz-Romero M, Gordillo-Fernández LM, et al. Management of Skin Lesions in Patients with Epidermolysis Bullosa by Topical Treatment: Systematic Review and Meta-Analysis. Healthcare. 2024; 12(2):261. doi:10.3390/healthcare12020261.
27. Guide SV, Gonzalez ME, Bağcı IS, Agostini B, Chen H, Feeney G, er al. Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa. N Engl J Med. 2022;387(24):2211-9. doi:10.1056/NEJMoa2206663.
28. Haft MA, Park HH, Lee SS, Sprague JM, Paller AS, Cotton CH, et al. Diagnosis and Management of Pediatric Chronic Hand Eczema: The PeDRA CACHES Survey. Paediatr Drugs. 2023;25(4):459-66. doi:10.1007/s40272-023-00574-x.
29. Jensen JD, Resnick SD. Porphyria in childhood. Semin Dermatol. 1995;14(1):33-9. doi: 10.1016/s1085-5629(05)80037-9
30. Hammers CM, Stanley JR. Mechanisms of Disease: Pemphigus and Bullous Pemphigoid. Annu Rev Pathol. 2016;11:175-97. doi:10.1146/annurev-pathol-012615-044313
31. Odonwodo A, Vashisht P. Bullous Systemic Lupus Erythematosus. [Updated 2023 May 22]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan. Available from: https://www.ncbi.nlm.nih.gov/books/NBK557445/
32. Xie F, Lehman JS. Bullous Tinea Pedis. Mayo Clin Proc. 2022;97(7):1396-7. doi:10.1016/j.mayocp.2022.05.007
33. Schiller S, Seebode C, Hennies HC, Giehl K, Emmert S. Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease. J Dtsch Dermatol Ges. 2014;12(9):781-8. doi:10.1111/ddg.12418
34. Kim JH, Kim SC. Epidermolysis bullosa acquisita. J Eur Acad Dermatol Venereol. 2013;27(10):1204-13. doi:10.2340/00015555-1065
35. Taj FT, Sajjan VV, Singh D. Ehlers-Danlos syndrome. Indian Dermatol Online J. 2014;5(Suppl 1):S68-70. doi: 10.4103/2229-5178.144554
36. Robertson SJ, Orrin E, Lakhan MK, O'Sullivan G, Felton J, Robson A, et al. Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study. Acta Derm Venereol. 2021;101(8):adv00523. doi:10.2340/00015555-3875
37. Polizzi A, Santonocito S, Patini R, Quinzi V, Mummolo S, Leonardi R, et al. Oral Alterations in Heritable Epidermolysis Bullosa: A Clinical Study and Literature Review. Biomed Res Int. 2022;2022:6493156. doi:10.1155/2022/6493156
38. Fantauzzi RS, Maia MO, Cunha FC, Simões RV, Gonçalves DU, Maia AF. Otorhinolaryngological and esophageal manifestations of epidermolysis bullosa. Braz J Otorhinolaryngol. 2008;74(5):657-61. doi:10.1016/S1808-8694(15)31373-2
39. Salera S, Tadini G, Rossetti D, Grassi FS, Marchisio P, Agostoni C, et al. A nutrition-based approach to epidermolysis bullosa: Causes, assessments, requirements and management. Clin Nutr. 2020;39(2):343-52. doi:10.1016/j.clnu.2019.02.023
40. Reimer A, Hess M, Schwieger-Briel A, Kiritsi D, Schauer F, Schumann H, et al. Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study. Br J Dermatol. 2020;182(6):1437-48. doi:10.1111/bjd.18475
41. Chen JS, Yang A, Murrell DF. Prevalence and pathogenesis of osteopenia and osteoporosis in epidermolysis bullosa: An evidence-based review [published correction appears in Exp Dermatol. 2020;29(6):575]. Exp Dermatol. 2019;28(10):1122-1130. doi:10.1111/exd.13771
42. Khan MT, O'Sullivan M, Faitli B, Mellerio JE, Fawkes R, Wood M, et al. Foot care in epidermolysis bullosa: evidence-based guideline. Br J Dermatol. 2020;182(3):593-604. doi: 10.1111/bjd.18381
43. Bachir Y, Daruich A, Marie C, Robert MP, Bremond-Gignac D. Eye Involvement and Management in Inherited Epidermolysis Bullosa. Drugs. 2022;82(12):1277-85. doi:10.1007/s40265-022-01770-8
44. Cicek N, Yildiz N, Asadov R, Yucelten AD, Tugtepe H, Alpay H. Kidney and Urinary Tract Involvement in Epidermolysis Bullosa: Is Routine Follow-Up Necessary? Dermatol Pract Concept. 2021;11(3):e2021051. doi:10.5826/dpc.1103a51
45. Małecki M, Domański M, Ciechanowski K. End-stage kidney disease in patient with epidermolysis bullosa - what are the treatment options? - case report. BMC Nephrol. 2017;18(1):193. doi: 10.1186/s12882-017-0606-6
46. Steinkampf MP, Reilly SD, Ackerman GE. Vaginal agglutination and hematometra associated with epidermolysis bullosa. Obstet Gynecol. 1987;69(3 Pt 2):519-21.
47. Fine JD, Hall M, Weiner M, Li KP, Suchindran C. The risk of cardiomyopathy in inherited epidermolysis bullosa. Br J Dermatol. 2008;159(3):677-82. doi: 10.1111/j.1365-2133.2008.08697.x
48. Devergne C, Demirtas S, Gauvin Y, Bellon N, Chiaverini C, Misery L, et al. Laryngeal stenosis associated with epidermolysis bullosa simplex. JAAD Case Rep. 2020;6(5):465-7. doi: 10.1016/j.jdcr.2020.02.033
49. Alstrup M, Marks SD, Ek J, Buchvald F, Lund TK, Perch M, et al. First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood. Eur J Med Genet. 2021;64(11):104335. doi: 10.1016/j.ejmg.2021.104335
50. Soon K, Mason R, Martinez AE, Mellerio JE. The psychological functioning of children with epidermolysis bullosa and its relationship with specific aspects of disease. Br J Dermatol. 2020;182(3):789-90.
Published
2024/09/27
Section
Članci
Autori koji objavljuju u ovom časopisu pristaju na sledeće uslove:
- Autori zadržavaju autorska prava i pružaju časopisu pravo prvog objavljivanja rada i licenciraju ga "Creative Commons Attribution licencom" koja omogućava drugima da dele rad, uz uslov navođenja autorstva i izvornog objavljivanja u ovom časopisu.
- Autori mogu izraditi zasebne, ugovorne aranžmane za neekskluzivnu distribuciju članka objavljenog u časopisu (npr. postavljanje u institucionalni repozitorijum ili objavljivanje u knjizi), uz navođenje da je članak izvorno objavljen u ovom časopisu.
- Autorima je dozvoljeno i podstiču se da postave objavljeni članak onlajn (npr. u institucionalni repozitorijum ili na svoju internet stranicu) pre ili tokom postupka prijave rukopisa, s obzirom da takav postupak može voditi produktivnoj razmeni ideja i ranijoj i većoj citiranosti objavljenog članka (Vidi Efekti otvorenog pristupa).