Recessive dystrophic epidermolysis bullosa

Common Name(s)

Recessive dystrophic epidermolysis bullosa

Autosomal recessive dystrophic epidermolysis bullosa is a severe skin disorder beginning at birth and characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane. This results in mutilating scarring and contractures of the hands, feet, and joints. Patients also developed strictures of the gastrointestinal tract from mucosal involvement, which can lead to poor nutrition. Affected individuals have an increased risk of developing aggressive squamous cell carcinoma ({15:Christiano et al., 1996}; {53:Varki et al., 2007}). Allelic disorders include autosomal dominant DEB (DDEB; 131750), in which the phenotype is less severe, and nonsyndromic congenital nail disorder-8 (NDNC8; {607523}), which has been found to segregate as an autosomal dominant trait in heterozygous carriers in some families with recessive DEB.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Recessive dystrophic epidermolysis bullosa" for support, advocacy or research.

Pioneering Unique Cures for Kids

Our Vision: Pioneering Unique Cures for Kids envisions a day when there are various treatment options for kids with rare diseases, and no child has to die from these diseases again. Our Mission: By funding and advocating for cutting edge research, Pioneering Unique Cures for Kids helps transform rare, incurable childhood diseases into curable ones, one disease at a time.

Last Updated: 11 Feb 2013

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United Survivors with EB

USeb, a nonprofit corporation organized & run primarily by people with EB. Our mission is to provide services that will assist people with EB in becoming more self-reliant through social, cultural, recreational, rehabilitative, educational, & occupational opportunities. We value self-reliance because it inspires individual productivity, builds self-esteem, stimulates human happiness, and heals the dignity of the soul. These benefits particularly enable people with EB to cope and rise to a position where they can succeed independently, help others to do the same, and contribute to society.

Last Updated: 7 Nov 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Recessive dystrophic epidermolysis bullosa" for support, advocacy or research.

Pioneering Unique Cures for Kids

Our Vision: Pioneering Unique Cures for Kids envisions a day when there are various treatment options for kids with rare diseases, and no child has to die from these diseases again. Our Mission: By funding and advocating for cutting edge research, Pioneering Unique Cures for Kids helps transform rare, incurable childhood diseases into curable ones, one disease at a time.

http://www.puckfund.org

Last Updated: 11 Feb 2013

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United Survivors with EB

USeb, a nonprofit corporation organized & run primarily by people with EB. Our mission is to provide services that will assist people with EB in becoming more self-reliant through social, cultural, recreational, rehabilitative, educational, & occupational opportunities. We value self-reliance because it inspires individual productivity, builds self-esteem, stimulates human happiness, and heals the dignity of the soul. These benefits particularly enable people with EB to cope and rise to a position where they can succeed independently, help others to do the same, and contribute to society.

http://www.ebsurvivors.org

Last Updated: 7 Nov 2013

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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 "Recessive dystrophic epidermolysis bullosa" returned 49 free, full-text research articles on human participants. First 3 results:

Systemic protein therapy for recessive dystrophic epidermolysis bullosa: how far are we from clinical translation?
 

Author(s): Alain Hovnanian

Journal: J. Invest. Dermatol.. 2013 Jul;133(7):1719-21.

 

In this issue, Woodley et al. report restoration of anchoring fibril formation and dermal-epidermal adherence in a murine model of recessive dystrophic epidermolysis bullosa (RDEB) by intravenous injection of recombinant human type VII collagen. This work follows a previous report ...

Last Updated: 13 Jun 2013

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A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.
 

Author(s): J Park, H Chae, M Kim, Y Kim, I Y Park, J C Shin, Y M Park

Journal:

 

Dystrophic epidermolysis bullosa (DEB) is an inherited skin fragility disorder that presents various clinical manifestations. DEB is characterized by separation of sublamina densa tissue and abnormalities in the anchoring fibrils that result from mutations in COL7A1 and subsequent ...

Last Updated: 2 Apr 2013

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Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.
 

Author(s): Ying Lin, Xue-Jun Chen, Wei Liu, Bo Gong, Jun Xie, Jun-Hao Xiong, Jing Cheng, Xi-Ling Duan, Zhao-Chun Lin, Lu-Lin Huang, Hui-Ying Wan, Xiao-Qi Liu, Lin-Hong Song, Zheng-Lin Yang

Journal: PLoS ONE. 2012 ;7(11):e50579.

 

Dystrophic epidermolysis bullosa is an inherited bullous dermatosis caused by the COL7A1 gene mutation in autosomal dominant or recessive mode. COL7A1 gene encodes type VII collagen - the main component of the anchoring fibrils at the dermal-epidermal junction. Besides the 730 mutations ...

Last Updated: 11 Dec 2012

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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 "Recessive dystrophic epidermolysis bullosa" returned 1 free, full-text review articles on human participants. First 3 results:

[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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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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Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa

 

Last Updated: 27 Mar 2014

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