Epidermolysis bullosa: Advances in research and treatment

Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility disorders caused by mutations in at least 20 different genes. There is no cure for any of the subtypes of EB resulting from different mutations, and current therapy only focuses on the management of wounds a...

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Published inExperimental dermatology Vol. 28; no. 10; pp. 1176 - 1189
Main Authors Prodinger, Christine, Reichelt, Julia, Bauer, Johann W., Laimer, Martin
Format Journal Article
LanguageEnglish
Published Denmark Wiley Subscription Services, Inc 01.10.2019
John Wiley and Sons Inc
Subjects
Anthraquinones - therapeutic use
Antibodies, Monoclonal, Humanized - therapeutic use
Antimicrobial Cationic Peptides - therapeutic use
Antineoplastic Agents, Immunological - therapeutic use
calcipotriol
Calcitriol - analogs & derivatives
Calcitriol - therapeutic use
Carcinoma, Squamous Cell - etiology
Carcinoma, Squamous Cell - therapy
Cathelicidins
Clinical Trials, Phase II as Topic
diacerein
Epidermolysis bullosa
Epidermolysis Bullosa - genetics
Epidermolysis Bullosa - therapy
Gene therapy
Genetic Predisposition to Disease
Genetic Therapy
genodermatoses
Humans
Immunotherapy
Immunotherapy, Active
Metastases
Molecular Targeted Therapy
Monoclonal antibodies
Multicenter Studies as Topic
Mutation
Nivolumab - therapeutic use
Palliative Care
PD-1 protein
Programmed Cell Death 1 Receptor - antagonists & inhibitors
Programmed Cell Death 1 Receptor - immunology
Prospective Studies
Review
Skin diseases
Skin Neoplasms - etiology
Skin Neoplasms - therapy
Squamous cell carcinoma
Therapies, Investigational
Wound healing
Wound Healing - drug effects
Austria
calcipotriol
diacerein
gene therapy
genodermatoses
squamous cell carcinoma
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Abstract Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility disorders caused by mutations in at least 20 different genes. There is no cure for any of the subtypes of EB resulting from different mutations, and current therapy only focuses on the management of wounds and pain. Novel effective therapeutic approaches are therefore urgently required. Strategies include gene‐, protein‐ and cell‐based therapies. This review discusses molecular procedures currently under investigation at the EB House Austria, a designated Centre of Expertise implemented in the European Reference Network for Rare and Undiagnosed Skin Diseases. Current clinical research activities at the EB House Austria include newly developed candidate substances that have emerged out of our translational research initiatives as well as already commercially available medications that are applied in off‐licensed indications. Squamous cell carcinoma is the major cause of death in severe forms of EB. We are evaluating immunotherapy using an anti‐PD1 monoclonal antibody as a palliative treatment option for locally advanced or metastatic squamous cell carcinoma of the skin unresponsive to previous systemic therapy. In addition, we are evaluating topical calcipotriol and topical diacerein as potential agents to improve the healing of skin wounds in EBS patients. Finally, the review will highlight the recent advancements of gene therapy development for EB.
AbstractList Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility disorders caused by mutations in at least 20 different genes. There is no cure for any of the subtypes of EB resulting from different mutations, and current therapy only focuses on the management of wounds and pain. Novel effective therapeutic approaches are therefore urgently required. Strategies include gene‐, protein‐ and cell‐based therapies. This review discusses molecular procedures currently under investigation at the EB House Austria, a designated Centre of Expertise implemented in the European Reference Network for Rare and Undiagnosed Skin Diseases. Current clinical research activities at the EB House Austria include newly developed candidate substances that have emerged out of our translational research initiatives as well as already commercially available medications that are applied in off‐licensed indications. Squamous cell carcinoma is the major cause of death in severe forms of EB. We are evaluating immunotherapy using an anti‐PD1 monoclonal antibody as a palliative treatment option for locally advanced or metastatic squamous cell carcinoma of the skin unresponsive to previous systemic therapy. In addition, we are evaluating topical calcipotriol and topical diacerein as potential agents to improve the healing of skin wounds in EBS patients. Finally, the review will highlight the recent advancements of gene therapy development for EB.
Abstract Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility disorders caused by mutations in at least 20 different genes. There is no cure for any of the subtypes of EB resulting from different mutations, and current therapy only focuses on the management of wounds and pain. Novel effective therapeutic approaches are therefore urgently required. Strategies include gene‐, protein‐ and cell‐based therapies. This review discusses molecular procedures currently under investigation at the EB House Austria, a designated Centre of Expertise implemented in the European Reference Network for Rare and Undiagnosed Skin Diseases. Current clinical research activities at the EB House Austria include newly developed candidate substances that have emerged out of our translational research initiatives as well as already commercially available medications that are applied in off‐licensed indications. Squamous cell carcinoma is the major cause of death in severe forms of EB. We are evaluating immunotherapy using an anti‐PD1 monoclonal antibody as a palliative treatment option for locally advanced or metastatic squamous cell carcinoma of the skin unresponsive to previous systemic therapy. In addition, we are evaluating topical calcipotriol and topical diacerein as potential agents to improve the healing of skin wounds in EBS patients. Finally, the review will highlight the recent advancements of gene therapy development for EB.
Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility disorders caused by mutations in at least 20 different genes. There is no cure for any of the subtypes of EB resulting from different mutations, and current therapy only focuses on the management of wounds and pain. Novel effective therapeutic approaches are therefore urgently required. Strategies include gene-, protein- and cell-based therapies. This review discusses molecular procedures currently under investigation at the EB House Austria, a designated Centre of Expertise implemented in the European Reference Network for Rare and Undiagnosed Skin Diseases. Current clinical research activities at the EB House Austria include newly developed candidate substances that have emerged out of our translational research initiatives as well as already commercially available medications that are applied in off-licensed indications. Squamous cell carcinoma is the major cause of death in severe forms of EB. We are evaluating immunotherapy using an anti-PD1 monoclonal antibody as a palliative treatment option for locally advanced or metastatic squamous cell carcinoma of the skin unresponsive to previous systemic therapy. In addition, we are evaluating topical calcipotriol and topical diacerein as potential agents to improve the healing of skin wounds in EBS patients. Finally, the review will highlight the recent advancements of gene therapy development for EB.Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility disorders caused by mutations in at least 20 different genes. There is no cure for any of the subtypes of EB resulting from different mutations, and current therapy only focuses on the management of wounds and pain. Novel effective therapeutic approaches are therefore urgently required. Strategies include gene-, protein- and cell-based therapies. This review discusses molecular procedures currently under investigation at the EB House Austria, a designated Centre of Expertise implemented in the European Reference Network for Rare and Undiagnosed Skin Diseases. Current clinical research activities at the EB House Austria include newly developed candidate substances that have emerged out of our translational research initiatives as well as already commercially available medications that are applied in off-licensed indications. Squamous cell carcinoma is the major cause of death in severe forms of EB. We are evaluating immunotherapy using an anti-PD1 monoclonal antibody as a palliative treatment option for locally advanced or metastatic squamous cell carcinoma of the skin unresponsive to previous systemic therapy. In addition, we are evaluating topical calcipotriol and topical diacerein as potential agents to improve the healing of skin wounds in EBS patients. Finally, the review will highlight the recent advancements of gene therapy development for EB.
Author Reichelt, Julia
Bauer, Johann W.
Prodinger, Christine
Laimer, Martin
AuthorAffiliation 1 EB House Austria Research Program for Molecular Therapy of Genodermatoses Department of Dermatology University Hospital of the Paracelsus Medical University Salzburg Salzburg Austria
2 Department of Dermatology University Hospital of the Paracelsus Medical University Salzburg Austria
3 Department of Dermatology Venereology and Allergology, Medical University of Innsbruck Innsbruck Austria
AuthorAffiliation_xml – name: 3 Department of Dermatology Venereology and Allergology, Medical University of Innsbruck Innsbruck Austria
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– name: 2 Department of Dermatology University Hospital of the Paracelsus Medical University Salzburg Austria
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  surname: Reichelt
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  surname: Laimer
  fullname: Laimer, Martin
  organization: University Hospital of the Paracelsus Medical University
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Issue 10
Keywords calcipotriol
diacerein
gene therapy
genodermatoses
squamous cell carcinoma
Language English
License Attribution
2019 The Authors. Experimental Dermatology Published by John Wiley & Sons Ltd.
This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
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A Review article for the FTI “Genodermatoses and other rare skin diseases”.
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  text: October 2019
PublicationDecade 2010
PublicationPlace Denmark
PublicationPlace_xml – name: Denmark
– name: Chichester
– name: Hoboken
PublicationTitle Experimental dermatology
PublicationTitleAlternate Exp Dermatol
PublicationYear 2019
Publisher Wiley Subscription Services, Inc
John Wiley and Sons Inc
Publisher_xml – name: Wiley Subscription Services, Inc
– name: John Wiley and Sons Inc
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Snippet Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility disorders caused by mutations in at least 20 different genes....
Abstract Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility disorders caused by mutations in at least 20 different...
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pubmed
wiley
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SubjectTerms Anthraquinones - therapeutic use
Antibodies, Monoclonal, Humanized - therapeutic use
Antimicrobial Cationic Peptides - therapeutic use
Antineoplastic Agents, Immunological - therapeutic use
calcipotriol
Calcitriol - analogs & derivatives
Calcitriol - therapeutic use
Carcinoma, Squamous Cell - etiology
Carcinoma, Squamous Cell - therapy
Cathelicidins
Clinical Trials, Phase II as Topic
diacerein
Epidermolysis bullosa
Epidermolysis Bullosa - genetics
Epidermolysis Bullosa - therapy
Gene therapy
Genetic Predisposition to Disease
Genetic Therapy
genodermatoses
Humans
Immunotherapy
Immunotherapy, Active
Metastases
Molecular Targeted Therapy
Monoclonal antibodies
Multicenter Studies as Topic
Mutation
Nivolumab - therapeutic use
Palliative Care
PD-1 protein
Programmed Cell Death 1 Receptor - antagonists & inhibitors
Programmed Cell Death 1 Receptor - immunology
Prospective Studies
Review
Skin diseases
Skin Neoplasms - etiology
Skin Neoplasms - therapy
Squamous cell carcinoma
Therapies, Investigational
Wound healing
Wound Healing - drug effects
Title Epidermolysis bullosa: Advances in research and treatment
URI https://onlinelibrary.wiley.com/doi/abs/10.1111%2Fexd.13979
https://www.ncbi.nlm.nih.gov/pubmed/31140655
https://www.proquest.com/docview/2310233846
https://www.proquest.com/docview/2231853066
https://pubmed.ncbi.nlm.nih.gov/PMC6900197
Volume 28
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