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

A multitask clustering approach for single-cell RNA-seq analysis in Recessive Dystrophic Epidermolysis Bullosa.
 

Author(s): Huanan Zhang, Catherine A A Lee, Zhuliu Li, John R Garbe, Cindy R Eide, Raphael Petegrosso, Rui Kuang, Jakub Tolar

Journal:

 

Single-cell RNA sequencing (scRNA-seq) has been widely applied to discover new cell types by detecting sub-populations in a heterogeneous group of cells. Since scRNA-seq experiments have lower read coverage/tag counts and introduce more technical biases compared to bulk RNA-seq experiments, ...

Last Updated: 31 Dec 1969

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Pretibial dystrophic epidermolysis bullosa.
 

Author(s): Elisabeth de Albuquerque Cavalcanti Callegaro, Flavio Nappi, Rosana Lazzarini, Rute Facchini Lellis

Journal: An Bras Dermatol. 2017 ;92(5 Suppl 1):126-128.

 

Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main constituent of anchoring fibrils. ...

Last Updated: 31 Dec 1969

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Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.
 

Author(s): Liliana Guerra, Angelo Giuseppe Condorelli, Paola Fortugno, Valentina Calabresi, Cristina Pedicelli, Giovanni Di Zenzo, Daniele Castiglia

Journal: Acta Derm. Venereol.. 2018 Apr;98(4):411-415.

 

Circulating anti-type VII collagen autoantibodies are frequently detected in patients with recessive dystrophic epidermolysis bullosa (RDEB). However, evidence supporting their pathogenic role in inducing epidermolysis bullosa acquisita (EBA) has been provided for only one individual ...

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

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa.
 

Author(s): Velina S Atanasova, Qiujie Jiang, Marco Prisco, Christina Gruber, Josefina Piñón Hofbauer, Mei Chen, Cristina Has, Leena Bruckner-Tuderman, John A McGrath, Jouni Uitto, Andrew P South

Journal: J. Invest. Dermatol.. 2017 09;137(9):1842-1849.

 

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by the lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis. A total of 46% of patients ...

Last Updated: 31 Dec 1969

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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 06;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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Topical KB103 Gene Therapy to Restore Functional Collagen VII for the Treatment of Dystrophic Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Dystrophic Epidermolysis Bullosa

 

Last Updated: 25 May 2018

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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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Evaluation of the Safety and Efficacy Study of RGN-137 Topical Gel for Junctional and Dystrophic Epidermolysis Bullosa
 

Status: Not yet recruiting

Condition Summary: Junctional Epidermolysis Bullosa; Dystrophic Epidermolysis Bullosa

 

Last Updated: 14 Sep 2018

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