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

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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Peripheral neuro-immune pathology in recessive dystrophic epidermolysis bullosa.
 

Author(s): Madison R Mack, Gwen Wendelschafer-Crabb, Brian D McAdams, Maria K Hordinsky, William R Kennedy, Jakub Tolar

Journal: J. Invest. Dermatol.. 2015 Apr;135(4):1193-7.

 

Last Updated: 19 Mar 2015

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Genetically corrected iPSCs as cell therapy for recessive dystrophic epidermolysis bullosa.
 

Author(s): Daniel Wenzel, Jonathan Bayerl, Alexander Nyström, Leena Bruckner-Tuderman, Arabella Meixner, Josef M Penninger

Journal: Sci Transl Med. 2014 Nov;6(264):264ra165.

 

Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in the gene encoding type VII collagen, resulting in fragile skin and mucous membranes that blister easily in response to mechanical stress. Induced pluripotent stem cells (iPSCs) carry the potential to fundamentally ...

Last Updated: 27 Nov 2014

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

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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[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: Not yet recruiting

Condition Summary: Recessive Dystrophic Epidermolysis Bullosa

 

Last Updated: 7 Jul 2015

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