Recent advances in understanding and managing epidermolysis bullosa [version 1; referees: 2 approved]
Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous skin fragility disorder characterized by trauma-induced skin dissociation and the development of painful wounds. So far, mutations in 20 genes have been described as being associated with more than 30 clinical EB subtypes. The...
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| Format: | Article |
| Language: | English |
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F1000 Research Ltd
2018-07-01
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| Series: | F1000Research |
| Online Access: | https://f1000research.com/articles/7-1097/v1 |
| _version_ | 1818526836845445120 |
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| author | Dimitra Kiritsi Alexander Nyström |
| author_facet | Dimitra Kiritsi Alexander Nyström |
| author_sort | Dimitra Kiritsi |
| collection | DOAJ |
| description | Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous skin fragility disorder characterized by trauma-induced skin dissociation and the development of painful wounds. So far, mutations in 20 genes have been described as being associated with more than 30 clinical EB subtypes. The era of whole-exome sequencing has revolutionized EB diagnostics with gene panels being developed in several EB centers and allowing quicker diagnosis and prognostication. With the advances of gene editing, more focus has been placed on gene editing-based therapies for targeted treatment. However, their implementation in daily care will still take time. Thus, a significant focus is currently being placed on achieving a better understanding of the pathogenetic mechanisms of each subtype and using this knowledge for the design of symptom-relief therapies, i.e. treatment options aimed at ameliorating and not curing the disease. |
| first_indexed | 2024-12-11T06:28:21Z |
| format | Article |
| id | doaj.art-0b7f613dbc2845cba582877db31d8697 |
| institution | Directory Open Access Journal |
| issn | 2046-1402 |
| language | English |
| last_indexed | 2024-12-11T06:28:21Z |
| publishDate | 2018-07-01 |
| publisher | F1000 Research Ltd |
| record_format | Article |
| series | F1000Research |
| spelling | doaj.art-0b7f613dbc2845cba582877db31d86972022-12-22T01:17:35ZengF1000 Research LtdF1000Research2046-14022018-07-01710.12688/f1000research.14974.116302Recent advances in understanding and managing epidermolysis bullosa [version 1; referees: 2 approved]Dimitra Kiritsi0Alexander Nyström1Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, 79104 Freiburg, GermanyDepartment of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, 79104 Freiburg, GermanyEpidermolysis bullosa (EB) is a clinically and genetically heterogeneous skin fragility disorder characterized by trauma-induced skin dissociation and the development of painful wounds. So far, mutations in 20 genes have been described as being associated with more than 30 clinical EB subtypes. The era of whole-exome sequencing has revolutionized EB diagnostics with gene panels being developed in several EB centers and allowing quicker diagnosis and prognostication. With the advances of gene editing, more focus has been placed on gene editing-based therapies for targeted treatment. However, their implementation in daily care will still take time. Thus, a significant focus is currently being placed on achieving a better understanding of the pathogenetic mechanisms of each subtype and using this knowledge for the design of symptom-relief therapies, i.e. treatment options aimed at ameliorating and not curing the disease.https://f1000research.com/articles/7-1097/v1 |
| spellingShingle | Dimitra Kiritsi Alexander Nyström Recent advances in understanding and managing epidermolysis bullosa [version 1; referees: 2 approved] F1000Research |
| title | Recent advances in understanding and managing epidermolysis bullosa [version 1; referees: 2 approved] |
| title_full | Recent advances in understanding and managing epidermolysis bullosa [version 1; referees: 2 approved] |
| title_fullStr | Recent advances in understanding and managing epidermolysis bullosa [version 1; referees: 2 approved] |
| title_full_unstemmed | Recent advances in understanding and managing epidermolysis bullosa [version 1; referees: 2 approved] |
| title_short | Recent advances in understanding and managing epidermolysis bullosa [version 1; referees: 2 approved] |
| title_sort | recent advances in understanding and managing epidermolysis bullosa version 1 referees 2 approved |
| url | https://f1000research.com/articles/7-1097/v1 |
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