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 99 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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Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect.
 

Author(s): Alexander Nyström, Jens Buttgereit, Michael Bader, Tatiana Shmidt, Cemil Ozcelik, Ingrid Hausser, Leena Bruckner-Tuderman, Johannes S Kern

Journal:

 

Dystrophic epidermolysis bullosa, a severely disabling hereditary skin fragility disorder, is caused by mutations in the gene coding for collagen VII, a specialized adhesion component of the dermal-epidermal junction zone. Both recessive and dominant forms are known; the latter account ...

Last Updated: 29 May 2013

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Prioritization of therapy uncertainties in Dystrophic Epidermolysis Bullosa: where should research direct to? an example of priority setting partnership in very rare disorders.
 

Author(s): Paula Davila-Seijo, Angela Hernández-Martín, Evanina Morcillo-Makow, Raúl de Lucas, Esther Domínguez, Natividad Romero, Eva Monrós, Marta Feito, Luis Carretero, Bea Aranegui, Ignacio García-Doval

Journal:

 

Dystrophic Epidermolysis Bullosa (DEB) is a rare genodermatosis (7 cases per million) that causes blisters and erosions with minor trauma in skin and mucosa, and other systemic complications. A recently updated systematic review showed that the research evidence about DEB therapies ...

Last Updated: 29 Apr 2013

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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

Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Dystrophic Epidermolysis Bullosa

 

Last Updated: 19 Jul 2013

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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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Characteristics of Patients With Dystrophic Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa Dystrophica

 

Last Updated: 6 Aug 2014

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