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

 

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

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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 171 free, full-text research articles on human participants. First 3 results:

Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial.
 

Author(s): Christine Chiaverini, Coralie Roger, Eric Fontas, Emmanuelle Bourrat, Eva Bourdon-Lanoy, Christine Labr├Ęze, Juliette Mazereeuw, Pierre Vabres, Christine Bodemer, Jean-Philippe Lacour

Journal:

 

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis with severe blistering. No curative treatment is available. Scientific data indicated that epigallocatechin-3-gallate (EGCG), a green tea extract, might improve the phenotype of RDEB patients. In a multicentre, ...

Last Updated: 26 Mar 2016

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Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa.
 

Author(s): Stephen A Watt, Jasbani H S Dayal, Sheila Wright, Megan Riddle, Celine Pourreyron, James R McMillan, Roy M Kimble, Marco Prisco, Ulrike Gartner, Emma Warbrick, W H Irwin McLean, Irene M Leigh, John A McGrath, Julio C Salas-Alanis, Jakub Tolar, Andrew P South

Journal:

 

Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in COL7A1 resulting in reduced or absent type VII collagen, aberrant anchoring fibril formation and subsequent dermal-epidermal fragility. Here, we identify a significant decrease in PLOD3 expression and its ...

Last Updated: 19 Sep 2015

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Intravenously Administered Recombinant Human Type VII Collagen Derived from Chinese Hamster Ovary Cells Reverses the Disease Phenotype in Recessive Dystrophic Epidermolysis Bullosa Mice.
 

Author(s): Yingping Hou, Lin T Guey, Timothy Wu, Robert Gao, Jon Cogan, Xinyi Wang, Elizabeth Hong, Weihuang Vivian Ning, Douglas Keene, Nan Liu, Yan Huang, Craig Kaftan, Bruce Tangarone, Igor Quinones-Garcia, Jouni Uitto, Omar L Francone, David T Woodley, Mei Chen

Journal: J. Invest. Dermatol.. 2015 Dec;135(12):3060-7.

 

Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited disorder characterized by skin fragility, blistering, and multiple skin wounds with no currently approved or consistently effective treatment. It is due to mutations in the gene encoding type VII collagen (C7). Using ...

Last Updated: 17 Nov 2015

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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 5 free, full-text review articles on human participants. First 3 results:

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):1705-7.

 

Last Updated: 13 Jun 2015

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Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.
 

Author(s): Makoto Nagai, Hiroshi Nagai, Chiharu Tominaga, Yoshiko Sakaguchi, Orie Jitsukawa, Noriko Ohgo, Chikako Nishigori, Kiyofumi Yamanishi

Journal: Acta Derm. Venereol.. 2015 May;95(5):629-31.

 

Last Updated: 29 Apr 2015

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[Successful treatment of Norwegian scabies with ivermectin in a patient with recessive dystrophic epidermolysis bullosa].
 

Author(s): C Angelo, C Pedicelli, A Provini, G Annessi, G Zambruno, M Paradisi

Journal: Minerva Pediatr.. 2004 Jun;56(3):353-7.

 

A 14 year-old female born from consanguineous healthy parents was admitted to our institute for the presence of a generalized bullous eruption started at birth. The bullae were asymmetrically distributed all over the cutaneous surface and, over time, evolved into erosions that resolved ...

Last Updated: 14 Jul 2004

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Symptoms, Diagnosis, and Treatment

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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: 16 Oct 2015

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Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Recessive Dystrophic Epidermolysis Bullosa

 

Last Updated: 25 Feb 2016

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Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Recessive Dystrophic Epidermolysis Bullosa

 

Last Updated: 3 May 2016

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