Rezension
Treatment of epidermolysis bullosa and future directions: a review
Abstract: Epidermolysis bullosa (EB) comprises rare genetic disorders characterized by skin and mucosal membrane blistering induced by mechanical trauma. Molecularly, pathogenic variants affect genes encoding proteins crucial for epidermal–dermal adhesion and stability. Management of severe EB is multidisciplinary, focusing on wound healing support, ensuring that patients thrive, and complication treatment. Despite extensive research over 30 years, novel therapeutic approaches face challenges. Gene therapy and protein therapy struggle with efficacy, while regenerative cell-based therapies show limited effects. Drug repurposing to target various pathogenic mechanisms has gained attention, as has in vivo gene therapy with drugs for dystrophic and junctional EB that were recently approved by the US Food and Drug Administration (FDA) and European Medicines Agency (EMA). However, their high cost limits global accessibility. This review examines therapeutic advancements made over the past 5 years, exploiting a systematic literature review and clinical trial data
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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Dermatology and therapy. - 14, 8 (2024) , 2059-2075, ISSN: 2190-9172
- Event
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Veröffentlichung
- (where)
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Freiburg
- (who)
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Universität
- (when)
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2024
- Creator
- DOI
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10.1007/s13555-024-01227-8
- URN
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urn:nbn:de:bsz:25-freidok-2559911
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:28 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Object type
- Rezension
Associated
- Danescu, Sorina
- Negrutiu, Mircea
- Has, Cristina
- Universität
Time of origin
- 2024
Other Objects (12)
Molecular therapeutics in development for Epidermolysis bullosa: update 2020
Strategy for the optimization of read-through therapy for junctional epidermolysis bullosa with COL17A1 nonsense mutation
Molecular and genetic mechanisms in junctional epidermolysis bullosa
Dupilumab verbessert Juckreiz und Blasenbildung bei verschiedenen Subtypen der Epidermolysis bullosa : = Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa
Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa
Junctional epidermolysis bullosa: allelic heterogeneity and mutation stratification for precision medicine
Orale Manifestationen bei Epidermolysis bullosa junktionalis: Genotyp-Phänotyp Korrelationen
Homozygous nonsense mutation and additional deletion of an amino acid in BPAG1e causing mild localized Epidermolysis Bullosa simplex
A silent COL17A1 variant alters splicing and causes junctional epidermolysis bullosa
The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis
Successful multidisciplinary treatment of chronic facial wounds in junctional epidermolysis bullosa
Betulin-based oleogel to improve wound healing in dystrophic epidermolysis bullosa: a prospective controlled proof-of-concept study
Molecular therapeutics in development for Epidermolysis bullosa: update 2020
Strategy for the optimization of read-through therapy for junctional epidermolysis bullosa with COL17A1 nonsense mutation
Molecular and genetic mechanisms in junctional epidermolysis bullosa
Dupilumab verbessert Juckreiz und Blasenbildung bei verschiedenen Subtypen der Epidermolysis bullosa : = Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa
Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa
Junctional epidermolysis bullosa: allelic heterogeneity and mutation stratification for precision medicine
Orale Manifestationen bei Epidermolysis bullosa junktionalis: Genotyp-Phänotyp Korrelationen
Homozygous nonsense mutation and additional deletion of an amino acid in BPAG1e causing mild localized Epidermolysis Bullosa simplex
A silent COL17A1 variant alters splicing and causes junctional epidermolysis bullosa
The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis
Successful multidisciplinary treatment of chronic facial wounds in junctional epidermolysis bullosa
Betulin-based oleogel to improve wound healing in dystrophic epidermolysis bullosa: a prospective controlled proof-of-concept study
Molecular therapeutics in development for Epidermolysis bullosa: update 2020
Strategy for the optimization of read-through therapy for junctional epidermolysis bullosa with COL17A1 nonsense mutation
Molecular and genetic mechanisms in junctional epidermolysis bullosa
Dupilumab verbessert Juckreiz und Blasenbildung bei verschiedenen Subtypen der Epidermolysis bullosa : = Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa
Dupilumab improves itch and blistering in different subtypes of epidermolysis bullosa
Junctional epidermolysis bullosa: allelic heterogeneity and mutation stratification for precision medicine
Orale Manifestationen bei Epidermolysis bullosa junktionalis: Genotyp-Phänotyp Korrelationen
Homozygous nonsense mutation and additional deletion of an amino acid in BPAG1e causing mild localized Epidermolysis Bullosa simplex
A silent COL17A1 variant alters splicing and causes junctional epidermolysis bullosa
The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis
Successful multidisciplinary treatment of chronic facial wounds in junctional epidermolysis bullosa