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

Treatment of Oral Lesions in Dystrophic Epidermolysis Bullosa: A Case Series of Cord Blood Platelet Gel and Low-level Laser Therapy.
 

Author(s): Ezio Sindici, Simona Astesano, Luigina Fazio, Antonella Dragonetti, Mariateresa Pugliese, Crispian Scully, Stefano Carossa, Roberto Broccoletti, Paolo G Arduino

Journal: Acta Derm. Venereol.. 2017 03;97(3):383-384.

 

Last Updated: 18 Aug 2016

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Leg amputation and dystrophic epidermolysis bullosa: A case report with 15 years of follow-up.
 

Author(s): André Thevenon, Marguerite Preud'homme, Philippe Patenotre, Benoit Catteau, Anne Blanchard-Dauphin, Valérie Wieczorek, Vincent Tiffreau

Journal: J Rehabil Med. 2016 Oct;48(9):833-835.

 

Dystrophic epidermolysis bullosa is a rare disease characterized by widespread blistering of the skin and mucous membranes, which may ultimately prompt limb amputation. In this context, the outcome of fitting a prosthesis to a chronically wounded stump is not well known. Our patient's ...

Last Updated: 18 Aug 2016

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Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa.
 

Author(s): Satoru Shinkuma, Zongyou Guo, Angela M Christiano

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2016 May;113(20):5676-81.

 

Genome editing with engineered site-specific endonucleases involves nonhomologous end-joining, leading to reading frame disruption. The approach is applicable to dominant negative disorders, which can be treated simply by knocking out the mutant allele, while leaving the normal allele ...

Last Updated: 18 May 2016

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

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():50-8.

 

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: 18 Jan 2016

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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):1705-7.

 

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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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: 1 Jan 2017

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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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Characteristics of Patients With Recessive Dystrophic Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa Dystrophica

 

Last Updated: 17 Mar 2016

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