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

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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Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging.
 

Author(s): Jenny S Breitenbach, Mark Rinnerthaler, Andrea Trost, Manuela Weber, Alfred Klausegger, Christina Gruber, Daniela Bruckner, Herbert A Reitsamer, Johann W Bauer, Michael Breitenbach

Journal: Aging (Albany NY). 2015 Jun;7(6):389-411.

 

The aging process of skin has been investigated recently with respect to mitochondrial function and oxidative stress. We have here observed striking phenotypic and clinical similarity between skin aging and recessive dystrophic Epidermolysis bullosa (RDEB), which is caused by recessive ...

Last Updated: 15 Jul 2015

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High Local Concentrations of Intradermal MSCs Restore Skin Integrity and Facilitate Wound Healing in Dystrophic Epidermolysis Bullosa.
 

Author(s): Tobias Kühl, Markus Mezger, Ingrid Hausser, Rupert Handgretinger, Leena Bruckner-Tuderman, Alexander Nyström

Journal: Mol. Ther.. 2015 Aug;23(8):1368-79.

 

Dystrophic epidermolysis bullosa (DEB) is an incurable skin fragility disorder caused by mutations in the COL7A1 gene, coding for the anchoring fibril protein collagen VII (C7). Life-long mechanosensitivity of skin and mucosal surfaces is associated with large body surface erosions, ...

Last Updated: 3 Aug 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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Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.
 

Author(s): Hye Jin Chung, Jouni Uitto

Journal: Dermatol Clin. 2010 Jan;28(1):93-105.

 

Type VII collagen is a major component of the anchoring fibrils of the dermal-epidermal adhesion on the dermal side at the lamina densa/papillary dermis interface. Dystrophic epidermolysis bullosa (DEB) emerged as a candidate for type VII collagen mutations becausing anchoring fibrils ...

Last Updated: 30 Nov 2009

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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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