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

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 GarcĂ­a, 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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Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy.
 

Author(s): Sofia von Bischhoffshausen, Dinka Ivulic, Paola Alvarez, Victor C Schuffeneger, Juan Idiaquez, Constanza Fuentes, Pilar Morande, Ignacia Fuentes, Francis Palisson, David L H Bennett, Margarita Calvo

Journal: Brain. 2017 May;140(5):1238-1251.

 

Small fibres in the skin are vulnerable to damage in metabolic or toxic conditions such as diabetes mellitus or chemotherapy resulting in small fibre neuropathy and associated neuropathic pain. Whether injury to the most distal portion of sensory small fibres due to a primary dermatological ...

Last Updated: 31 Dec 1969

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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 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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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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