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: 537 relevant articles (13 outcomes, 28 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Wounds and Injuries (Trauma)
2.	Pathologic Constriction (Stenosis)
3.	Cicatrix (Scar)
4.	Leg Ulcer
5.	Skin Diseases

Experts

1.	McGrath, John A: 8 articles (01/2015 - 04/2002)
2.	Bauer, Johann W: 7 articles (01/2015 - 07/2011)
3.	Uitto, Jouni: 7 articles (01/2009 - 04/2002)
4.	McGrath, J A: 6 articles (04/2014 - 11/2002)
5.	Bruckner-Tuderman, Leena: 6 articles (01/2014 - 12/2002)
6.	Jonkman, M F: 6 articles (07/2011 - 11/2000)
7.	Shimizu, Hiroshi: 6 articles (10/2010 - 02/2005)
8.	Has, Cristina: 5 articles (01/2014 - 01/2006)
9.	Mellerio, Jemima E: 5 articles (06/2013 - 01/2009)
10.	Sawamura, Daisuke: 5 articles (08/2012 - 02/2005)

Drugs and Biologics

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

1.	styrene-methylmethacrylate copolymerIBA 11/01/1998 - "In this study, we examined the expression of LAD-1 in the skin specimens of 70 patients with the various subtypes of epidermolysis bullosa, including simplex (n = 23), junctional (n = 15), and dystrophic variants (n = 32). " 06/01/1986 - "Prior to the performance of definitive diagnostic studies, each patient had been thought for at least a decade to have either a dystrophic or simplex form of epidermolysis bullosa. " 03/01/2010 - "Epidermolysis bullosa (EB) is classified into major types - EB simplex (EBS), junctional EB (JEB) and dystrophic EB (DEB) - on the basis of the level of tissue separation within the cutaneous basement membrane zone. " 11/01/2007 - "Epidermolysis bullosa (EB), a hereditary blistering condition of the skin, is divided into simplex, hemidesmosomal, junctional, and dystrophic types. " 06/01/2005 - "These observations were consistent with the simplex form of epidermolysis bullosa (EB) in humans. "
2.	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. " 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]." 01/01/2015 - "DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle." 09/01/1999 - "This study shows the limitations in predicting phenotype in epidermolysis bullosa solely based on mutation analysis of genomic DNA and emphasizes the importance of immunohistochemistry, electron microscopy, and mRNA assessment as parallel investigations."
3.	Trimethoprim (Proloprim)FDA LinkGeneric 02/01/2012 - "The efficacy of trimethoprim in wound healing of patients with epidermolysis bullosa: a feasibility trial."
4.	CortisoneIBA 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]."
5.	Adrenocorticotropic Hormone (ACTH)FDA Link 01/01/1952 - "[Case of polydysplasic epidermolysis bullosa improved with ACTH]." 05/10/1951 - "[ACTH therapy of hereditary epidermolysis bullosa]." 01/01/1956 - "[Epidermolysis bullosa; failure of cortisone and ACTH treatment]."
6.	TocopherolsFDA Link 11/01/1993 - "We have employed a successful therapy for epidermolysis bullosa with high-dose oral tocopherol acetate. " 11/01/1993 - "High-dose tocopherol acetate therapy in epidermolysis bullosa siblings of the Cockayne-Touraine type."
7.	Collagen Type I (Type I Collagen)IBA 03/01/2015 - "Reconstituted natural purified type I collagen skin substitutes improved the healing of chronic wounds and may be a valuable addition to the epidermolysis bullosa wound care arsenal."
8.	Bufexamac (Jomax)IBA 11/01/1988 - "Although, as yet, there is no specific treatment of epidermolysis bullosa (EB) simplex, anecdotal reports suggest the possible efficacy of one of the newer topical nonsteroidal anti-inflammatory agents, bufexamac. "
9.	Non-Steroidal Anti-Inflammatory Agents (NSAIDs)IBA 11/01/1988 - "Although, as yet, there is no specific treatment of epidermolysis bullosa (EB) simplex, anecdotal reports suggest the possible efficacy of one of the newer topical nonsteroidal anti-inflammatory agents, bufexamac. "
10.	pretibial Epidermolysis bullosaIBA 02/01/1990 - "Pretibial epidermolysis bullosa is a rare variant of hereditary epidermolysis bullosa that is characterized by the delayed onset of a blistering eruption limited to the pretibial area. "

Therapies and Procedures

1.	Transplantation (Transplant Recipients) 01/01/2014 - "Successful therapeutic transplantation of revertant skin in 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. " 09/01/2006 - "We believe that amniotic membrane transplantation is a valuable way to treat symblepharon in cases of epidermolysis bullosa." 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. " 12/01/2011 - "Subsequent studies by us and other groups have demonstrated that both embryonic and postnatal transplantation of bone marrow cells in model mice of epidermolysis bullosa (EB), a heritable blistering skin disease due to genetic mutation of cutaneous basement membrane components, promote skin wound healing and correct the intrinsic basement membrane defect. "
2.	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."
3.	Transplants (Transplant) 08/01/2013 - "[Importance of thorough removal of all affected tissues before grafting epidermolysis bullosa lesions: ten-year follow-up of one patient with multiple grafts]." 12/01/2012 - "Management of severe epidermolysis bullosa by haematopoietic transplant: principles, perspectives and pitfalls." 11/01/2011 - " on our findings in this case, when treating patients with epidermolysis bullosa, physicians must carefully observe whether enough dermis exists to avoid an unnecessary skin graft. " 05/01/1974 - "Five year followup of colonic transplants in patients with epidermolysis bullosa producing esophageal obstruction." 05/01/1969 - "Esophageal reconstruction--colon transplant--in two brothers with epidermolysis bullosa."
4.	Artificial Skin 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. " 03/01/2015 - "Reconstituted natural purified type I collagen skin substitutes improved the healing of chronic wounds and may be a valuable addition to the epidermolysis bullosa wound care arsenal."
5.	General Anesthesia 08/15/2011 - "To assess the efficacy of the procedural consolidation concept (PCC) at reducing the number of sessions of general anesthesia necessary for treating children with epidermolysis bullosa (EB). " 05/01/2012 - "Management of a pediatric patient with epidermolysis bullosa receiving comprehensive dental treatment under general anesthesia." 01/01/2006 - "General anesthesia with tracheal intubation may be chosen as anesthesia for patients with epidermolysis bullosa."