Epidermolysis Bullosa

Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.

Also Known As:

Networked: 759 relevant articles (25 outcomes, 48 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Wounds and Injuries (Trauma)
2.	Cicatrix (Scar)
3.	Bullous Pemphigoid (Pemphigoid)
4.	Pemphigus (Pemphigus Vulgaris)
5.	Dermatitis Herpetiformis (Disease, Duhring's)

Experts

1.	Uitto, Jouni: 20 articles (01/2022 - 04/2002)
2.	Bauer, Johann W: 14 articles (01/2022 - 01/2003)
3.	Has, Cristina: 12 articles (01/2022 - 04/2007)
4.	Bruckner-Tuderman, Leena: 11 articles (06/2019 - 12/2002)
5.	McGrath, John A: 10 articles (11/2022 - 04/2002)
6.	Shimizu, Hiroshi: 9 articles (01/2021 - 01/2006)
7.	Tolar, Jakub: 9 articles (12/2018 - 01/2009)
8.	Murrell, Dedee F: 8 articles (11/2020 - 01/2008)
9.	Koller, Ulrich: 7 articles (01/2022 - 12/2013)
10.	Jonkman, Marcel F: 7 articles (01/2022 - 01/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Epidermolysis Bullosa:

1.	Proteins (Proteins, Gene)FDA Link 12/01/2013 - "Though there are currently no effective treatment modalities for epidermolysis bullosa, techniques for gene and protein replacement show promising results for future use. " 04/01/2016 - "Our study expands the phenotypic spectrum of COL17A1 disease from autosomal recessive epidermolysis bullosa to autosomal dominant ERED and identifies COL17A1 as a key protein in maintaining integrity of the corneal epithelium." 01/01/2002 - "Recent studies have identified specific protein and genetic abnormalities for most epidermolysis bullosa subtypes. " 11/01/1999 - "In this study we have demonstrated preservation of the cutaneous basement membrane zone proteins in skin biopsies stored in Michel's medium for periods of up to 28 days - proving that Michel's medium can be used as a transport medium when sending skin biopsies for immunohistochemical studies to determine the structural and molecular deficiencies in genodermatoses such as inherited forms of epidermolysis bullosa." 07/21/2023 - "Epidermolysis bullosa (EB) is a devastating genetic condition caused by mutations in genes that give rise to aberrant proteins. "
2.	CollagenIBA 07/01/2019 - "Lysyl hydroxylase 3 mutations affect posttranslational modifications of collagens and lead to a dystrophic epidermolysis bullosa-like multisystemic disorder. " 12/01/1998 - "Therefore there may be a common cause of MVP and epidermolysis bullosa based upon an abnormality of collagen metabolism." 08/01/1996 - "Absent or defective collagen VII at the dermo-epidermal junction is the hallmark of dystrophic recessive epidermolysis bullosa. " 10/01/1987 - "[Contraction of collagen lattices by fibroblasts in epidermolysis bullosa]." 06/01/1987 - "Behavior of epidermolysis bullosa fibroblasts in a hydrated collagen lattice."
3.	Nonsense Codon (Nonsense Mutation)IBA 02/01/2021 - "A novel homozygous nonsense mutation in ITGB4 gene causes epidermolysis bullosa in Mouton Vendéen sheep." 12/01/2016 - "Autosomal recessive epidermolysis bullosa in Vorderwald and Rotes Höhenvieh cattle is caused by a nonsense mutation in the COL7A1 gene. " 12/01/2016 - "A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle." 10/01/2016 - "Sequencing the complete set of genes associated with epidermolysis bullosa revealed a homozygous nonsense mutation in exon 6 of EXPH5: c.3917C>G, p.Ser1306*. " 09/01/1995 - "The patient is affected with generalized atrophic benign epidermolysis bullosa (GABEB), a rare variant of JEB, and is a compound heterozygote for premature termination codons on both alleles. "
4.	DNA (Deoxyribonucleic Acid)IBA 04/01/2010 - "The development of DNA technology and improved knowledge of the structure and function of the human genome have led to the identification of the causative genes responsible for the different forms of epidermolysis bullosa (EB) and provided the opportunity to determine the precise location and type of mutations present in EB patients, allowing diagnosis of this disease at the level of the defective gene itself. " 10/10/2018 - "Whole exome sequencing was performed using genomic DNA from each case of epidermolysis bullosa, followed by massively parallel sequencing. " 06/01/2016 - "Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic." 11/01/2003 - "We have performed linkage analysis to genes that are mutated in generalized atrophic benign epidermolysis bullosa, followed by direct sequencing of patient genomic DNA. " 01/11/1998 - "[DNA-based prenatal diagnosis in epidermolysis bullosa]."
5.	Anti-Bacterial Agents (Antibiotics)IBA 01/01/2010 - "Results from this study provide data on which to base empiric antibiotic choice in patients with epidermolysis bullosa when needed and may be useful in planning strategies for decolonization and improved wound healing in this population." 11/01/2011 - "We describe a case of paraesophageal abscess associated with epidermolysis bullosa, a rare cause of dysphagia in these patients, which was resolved with antibiotic and steroid treatment. "
6.	Trimethoprim (Proloprim)FDA LinkGeneric 02/01/2012 - "The efficacy of trimethoprim in wound healing of patients with epidermolysis bullosa: a feasibility trial."
7.	AminoglycosidesIBA 07/01/2022 - "Currently, there is no cure for epidermolysis bullosa (EB) but few studies have explored the role of aminoglycosides in promoting collagen 7 expression in recessive dystrophic EB (RDEB). "
8.	Janus Kinase InhibitorsIBA 09/01/2022 - "The current study aimed to evaluate the efficacy of JAK inhibitors in the treatment of immunobullous diseases, including pemphigus, pemphigoid, dermatitis herpetiformis, and epidermolysis bullosa. "
9.	Losartan (Cozaar)FDA LinkGeneric 01/01/2021 - "Losartan for treatment of epidermolysis bullosa: A new perspective." 01/01/2022 - "Daily oral administration of losartan (0.7 mg/kg) for six weeks resulted in subjective improvement of the clinical features, as judged by the treating physicians and the patients, and the severity of the disease objectively improved based on Birmingham Epidermolysis Bullosa Severity (BEBS) score (30.1 ± 12.8 versus 23.3 ± 10.4, before and after treatment, p = 0.018), accompanied by improvement of quality of life, as determined by the EB-QoL questionnaire (24.0 ± 8.1 versus 17.7 ± 5.5, p = 0.018). " 04/01/2023 - "Our experience of using Losartan for esophageal stenosis in children with dystrophic form of congenital epidermolysis bullosa." 03/05/2022 - "Pharmaceutical Development of Film-Coated Mini-Tablets with Losartan Potassium for Epidermolysis Bullosa." 11/01/2023 - "Mini-tablets (MTs) with losartan potassium were developed to treat the rare disease Epidermolysis Bullosa. "
10.	CortisoneFDA Link 03/01/1954 - "Epidermolysis bullosa hereditaria letalis in newborn twins; report of two cases with failure to respond favorably to cortisone." 02/01/1955 - "Epidermolysis bullosa hereditaria lethalis; report of a case failing to respond to cortisone." 01/01/1956 - "[Epidermolysis bullosa; failure of cortisone and ACTH treatment]."

Therapies and Procedures

1.	Therapeutics 04/01/2017 - "The lack of validated outcome measures for epidermolysis bullosa (EB) presents major barriers to evaluating disease severity and comparing the efficacy of therapies. " 01/01/2018 - "Although there is currently no cure for epidermolysis bullosa, concurrent advances in gene and stem cell therapies are converging toward combinatorial therapies that hold the promise of clinically meaningful and lifelong improvement. " 01/01/2019 - "These therapies show that gene therapy is both safe and effective, with the potential to correct the molecular and clinical phenotype of patients with epidermolysis bullosa. " 01/01/2015 - "Focusing on the rare inherited fragile skin disorder epidermolysis bullosa, three recent innovative studies have used induced pluripotent stem cells and gene correction, revertant mosaicism or genome editing to advance the prospects of better cell-based therapeutics to restore skin structure and function for epidermolysis bullosa and potentially other inherited diseases. " 03/27/2023 - "Stem Cell Therapies for Epidermolysis Bullosa Treatment."
2.	Transplantation 01/01/2018 - "Our results indicate that bone marrow-derived stem cells preserve their mesodermal fate after systemic transplantation and are not capable of treating patients with epidermolysis bullosa with an intraepidermal skin defect." 01/01/2014 - "Successful therapeutic transplantation of revertant skin in epidermolysis bullosa." 09/01/2006 - "We believe that amniotic membrane transplantation is a valuable way to treat symblepharon in cases of epidermolysis bullosa." 09/01/2013 - "Transplantation of epithelia derived from keratinocyte stem cells transduced by retroviral vectors is a potential therapy for epidermolysis bullosa (EB), a family of inherited skin adhesion defects. " 10/01/2006 - "Amniotic membrane transplantation with symblepharon lysis is effective for ocular surface reconstruction in the management of epidermolysis bullosa and other conditions that cause corneal scarring and symblepharon in children. "
3.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/01/2018 - "Currently, there is no effective treatment or cure for epidermolysis bullosa, but bone marrow transplantation has been suggested to improve the clinical presentation and quality of life of some patients with the recessive dystrophic subtype of epidermolysis bullosa. " 01/01/2018 - "The Conundrum of Allogeneic Bone Marrow Transplantation for Epidermolysis Bullosa." 12/01/2012 - "Bone marrow transplantation in epidermolysis bullosa." 06/01/2016 - "A 3-year-old child with recessive dystrophic epidermolysis bullosa treated with bone marrow transplantation subsequently developed body-wide epidermal detachment distinct from his epidermolysis bullosa. " 08/10/2010 - "This study aims to clarify whether bone marrow transplantation (BMT) treatment can rescue epidermolysis bullosa (EB) caused by defects in keratinocyte structural proteins. "
4.	Solid-State Lasers 01/01/2014 - "The purpose of this study was to evaluate the efficacy of Er:YAG laser used for treating hard dental tissue in patients with epidermolysis bullosa (EB). " 01/01/2014 - "Er:YAG Laser Dental Treatment of Patients Affected by Epidermolysis Bullosa."
5.	Artificial Skin 11/01/2022 - "Epidermolysis Bullosa: A Review of the Tissue-Engineered Skin Substitutes Used to Treat Wounds." 10/01/2010 - "Congenital diseases like giant hairy nevi, aplasia cutis congenital or epidermolysis bullosa are conditions in children where skin substitutes play a role. " 04/01/2005 - "Nevertheless, the application of artificial skin technology to surgical treatment of squamous cell carcinomas in a patient with epidermolysis bullosa has never been reported. " 04/01/2005 - "Artificial skin as a valuable adjunct to surgical treatment of a large squamous cell carcinoma in a patient with epidermolysis bullosa." 02/01/1988 - "Omiderm, a synthetic temporary skin substitute, was used for the treatment of skin defects in a newborn who suffered from epidermolysis bullosa. "