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

Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa.
 

Author(s): Vittorio Sebastiano, Hanson Hui Zhen, Bahareh Haddad, Bahareh Haddad Derafshi, Elizaveta Bashkirova, Sandra P Melo, Pei Wang, Thomas L Leung, Zurab Siprashvili, Andrea Tichy, Jiang Li, Mohammed Ameen, John Hawkins, Susie Lee, Lingjie Li, Aaron Schwertschkow, Gerhard Bauer, Leszek Lisowski, Mark A Kay, Seung K Kim, Alfred T Lane, Marius Wernig, Anthony E Oro

Journal: Sci Transl Med. 2014 Nov;6(264):264ra163.

 

Patients with recessive dystrophic epidermolysis bullosa (RDEB) lack functional type VII collagen owing to mutations in the gene COL7A1 and suffer severe blistering and chronic wounds that ultimately lead to infection and development of lethal squamous cell carcinoma. The discovery ...

Last Updated: 27 Nov 2014

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Real-time PCR detection of the recessive dystrophic epidermolysis bullosa-associated c.2470insG mutation in unrelated Mexican families.
 

Author(s): María G Moreno-Treviño, Rafael B R León-Cachón, Francisco González-Salazar, Marcelino Aguirre-Garza, Ricardo M Cerda-Flores, Irene Meester, Julio C Salas-Alanis

Journal: Arch. Med. Res.. 2014 Oct;45(7):596-9.

 

Recessive dystrophic epidermolysis bullosa (R-DEB) is caused by mutations in the COL7A1 gene. The most common mutation reported in Mexican families is the c.2470insG mutation, normally detected by DNA sequencing. We report a faster and more economical high-throughput genotyping method ...

Last Updated: 16 Dec 2014

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Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity.
 

Author(s): Teresa Odorisio, Michela Di Salvio, Angela Orecchia, Giovanni Di Zenzo, Eugenia Piccinni, Francesca Cianfarani, Antonella Travaglione, Paolo Uva, Barbara Bellei, Andrea Conti, Giovanna Zambruno, Daniele Castiglia

Journal: Hum. Mol. Genet.. 2014 Aug;23(15):3907-22.

 

Recessive dystrophic epidermolysis bullosa (RDEB) is a genodermatosis characterized by fragile skin forming blisters that heal invariably with scars. It is due to mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils connecting the cutaneous ...

Last Updated: 5 Jul 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:

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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Dilated cardiomyopathy in dystrophic epidermolysis bullosa.
 

Author(s): R U Sidwell, R Yates, D Atherton

Journal: Arch. Dis. Child.. 2000 Jul;83(1):59-63.

 

Dystrophic epidermolysis bullosa (DEB) is an uncommon genetic disorder of the skin and mucosae. In 1996, we reported the occurrence of lethal dilated cardiomyopathy (DCM) in two affected children.

Last Updated: 18 Aug 2000

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)
 

Status: Recruiting

Condition Summary: Recessive Dystrophic Epidermolysis Bullosa

 

Last Updated: 17 Dec 2013

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A Phase I/II Study Evaluating Allogeneic Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis Bullosa
 

Status: Not yet recruiting

Condition Summary: Recessive Dystrophic Epidermolysis Bullosa

 

Last Updated: 18 Dec 2014

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