Dystrophic Epidermolysis Bullosa

Common Name(s)

Dystrophic Epidermolysis Bullosa

Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. Researchers classify DEB into three major types. Although the types differ in severity, their features overlap significantly. All three types are caused by mutations in the COL7A1 gene. The most severe types of dystrophic epidermolysis bullosa are inherited in an autosomal recessive pattern. A milder form of dystrophic epidermolysis bullosa has an autosomal dominant pattern of inheritance.
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Advocacy and Support Organizations Health Questions Recommended Apps Scientific Literature Symptoms, Diagnosis, and Treatment Clinical Trial Information
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dystrophic Epidermolysis Bullosa" for support, advocacy or research.

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dystrophic Epidermolysis Bullosa" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
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Recommended Apps

Privately answer questions about your health. Let resources, you select, come to you

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

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Relief is when you and the right researcher find each other

Finding the right clinical trial for Dystrophic Epidermolysis Bullosa can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dystrophic Epidermolysis Bullosa" returned 189 free, full-text research articles on human participants. First 3 results:

Pretibial dystrophic epidermolysis bullosa.
 

Author(s): Elisabeth de Albuquerque Cavalcanti Callegaro, Flavio Nappi, Rosana Lazzarini, Rute Facchini Lellis

Journal: An Bras Dermatol. 2017 ;92(5 Suppl 1):126-128.

 

Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main constituent of anchoring fibrils. ...

Last Updated: 31 Dec 1969

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An RNA-targeted therapy for dystrophic epidermolysis bullosa.
 

Author(s): Patricia Peking, Ulrich Koller, Blanca Duarte, Rodolfo Murillas, Susanne Wolf, Tobias Maetzig, Michael Rothe, Thomas Kocher, Marta García, Gabriele Brachtl, Axel Schambach, Fernando Larcher, Julia Reichelt, Johann W Bauer, Eva M Murauer

Journal: Nucleic Acids Res.. 2017 Sep;45(17):10259-10269.

 

Functional impairment or complete loss of type VII collagen, caused by mutations within COL7A1, lead to the severe recessive form of the skin blistering disease dystrophic epidermolysis bullosa (RDEB). Here, we successfully demonstrate RNA trans-splicing as an auspicious repair option ...

Last Updated: 31 Dec 1969

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Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients.
 

Author(s): David T Woodley, Jon Cogan, Yingping Hou, Chao Lyu, M Peter Marinkovich, Douglas Keene, Mei Chen

Journal: J. Clin. Invest.. 2017 Aug;127(8):3028-3038.

 

Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring ...

Last Updated: 31 Dec 1969

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PubMed Article Results at NCBI: 189 article(s)

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Dystrophic Epidermolysis Bullosa" returned 9 free, full-text review articles on human participants. First 3 results:

Type VII Collagen Replacement Therapy in Recessive Dystrophic Epidermolysis Bullosa-How Much, How Often?
 

Author(s): Andrew P South, Jouni Uitto

Journal: J. Invest. Dermatol.. 2016 Jun;136(6):1079-81.

 

Recessive dystrophic epidermolysis bullosa is a devastating blistering disease caused by mutations in the COL7A1 gene, which encodes type VII collagen, the major component of anchoring fibrils. The anchoring fibrils in patients with recessive dystrophic epidermolysis bullosa can be ...

Last Updated: 31 Dec 1969

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Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa.
 

Author(s): Christopher Perdoni, Mark J Osborn, Jakub Tolar

Journal: Transl Res. 2016 Feb;168():50-58.

 

Recessive dystrophic epidermolysis bullosa (RDEB) is a disease caused by mutations in the COL7A1 gene that result in absent or dysfunctional type VII collagen protein production. Clinically, RDEB manifests as early and severe chronic cutaneous blistering, damage to internal epithelium, ...

Last Updated: 31 Dec 1969

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Recessive Dystrophic Epidermolysis Bullosa: Advances in the Laboratory Leading to New Therapies.
 

Author(s): David T Woodley, Mei Chen

Journal: J. Invest. Dermatol.. 2015 Jul;135(7):1705-1707.

 

Last Updated: 31 Dec 1969

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To view other free, full-text review articles on human participants, please click on the link below.

PubMed Review Results at NCBI: 9 review(s)

 
 
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Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.
https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa
https://ghr.nlm.nih.gov/gene/COL7A1
https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa
https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex
https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-with-pyloric-atresia
https://ghr.nlm.nih.gov/gene/PLEC
https://ghr.nlm.nih.gov/gene/BFSP2
https://ghr.nlm.nih.gov/gene/KRT5
https://ghr.nlm.nih.gov/gene/EXPH5
https://ghr.nlm.nih.gov/gene/KLHL24
https://ghr.nlm.nih.gov/gene/COL17A1
https://ghr.nlm.nih.gov/gene/LAMC2
https://ghr.nlm.nih.gov/gene/LAMB3
https://ghr.nlm.nih.gov/gene/LAMA3
https://ghr.nlm.nih.gov/condition/laryngo-onycho-cutaneous-syndrome
https://ghr.nlm.nih.gov/gene/KRT14
https://ghr.nlm.nih.gov/gene/ITGA6
https://ghr.nlm.nih.gov/gene/FERMT1
https://ghr.nlm.nih.gov/condition/kindler-syndrome
https://ghr.nlm.nih.gov/gene/ITGB4
Full Results at Genetics Home Reference: 24 matches

There are currently no related results available in GeneReviews.

This information is provided by Genetic Testing Registry.
http://www.ncbi.nlm.nih.gov/gtr/conditions/C0079294
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study to Evaluate the Safety of ALLO-ASC-DFU in the Subjects With Dystrophic Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Dystrophic Epidermolysis Bullosa

 

Last Updated: 1 Jan 2017

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Intravenous Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB)
 

Status: Not yet recruiting

Condition Summary: Recessive Dystrophic Epidermolysis Bullosa

 

Last Updated: 2 Jan 2018

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Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa Patients With Nonsense Mutations
 

Status: Recruiting

Condition Summary: Recessive Dystrophic Epidermolysis Bullosa

 

Last Updated: 5 Jan 2017

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According to ClinicalTrials.gov there are currently 4 additional "open" studies for "Dystrophic Epidermolysis Bullosa" (open studies are recruiting volunteers) and 32 "Dystrophic Epidermolysis Bullosa" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:
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Relief is when you and the right researcher find each other
Finding the right clinical trial for Dystrophic Epidermolysis Bullosa can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Learn More