Epidermolysis Bullosa Simplex

Common Name(s)

Epidermolysis Bullosa Simplex

Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. EBS is classified into two groups of subtypes by the layer of skin at which the peeling originates. The basal subtypes cause skin peeling at the lower layers of the epidermis. The most common basal subtypes include EBS localized, Dowling Meara EBS, Generalized other EBS and EBS with muscular dystrophy. More rarely seen basal subtypes include EBS with mottled pigmentation, EBS with pyloic atreseia, EBS Ogna, and EBS circinate migratory.The suprabasal subtypes cause skin peeling at the upper layers of the epidermis and include the rare forms known as Lethal acantolythic EB, Plakophilin deficiency, and EBS superficialis (EBSS). Symptoms of EBS range from mild in the Weber-Cockayne type to severe with blistering that is present at birth or after. Milder phenotypes of EBS have blistering confined to the limbs, whereas in the most severe Dowling Meara type, blisters may also form in the mouth. All of the types are typically caused by mutations in the KRT5 and KRT14 genes. They are usually inherited in an autosomal dominant pattern, but autosomal recessive inheritance has occurred in rare cases. Treatment plans differ depending on severity but typically focus on preventing formation of blisters, caring for blistered skin, and treating infection.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Epidermolysis Bullosa Simplex" for support, advocacy or research.

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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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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Epidermolysis Bullosa Simplex" for support, advocacy or research.

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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 "Epidermolysis Bullosa Simplex" returned 71 free, full-text research articles on human participants. First 3 results:

MMP-9 and CXCL8/IL-8 are potential therapeutic targets in epidermolysis bullosa simplex.
 

Author(s): Thomas Lettner, Roland Lang, Alfred Klausegger, Stefan Hainzl, Johann W Bauer, Verena Wally

Journal:

 

Epidermolysis bullosa refers to a group of genodermatoses that affects the integrity of epithelial layers, phenotypically resulting in severe skin blistering. Dowling-Meara, the major subtype of epidermolysis bullosa simplex, is inherited in an autosomal dominant manner and can be ...

Last Updated: 29 Jul 2013

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A novel keratin 5 mutation in an African family with epidermolysis bullosa simplex indicates the importance of the amino acid located at the boundary site between the H1 and coil 1A domains.
 

Author(s): Satoru Shinkuma, Wataru Nishie, Witold K Jacyk, Ken Natsuga, Hideyuki Ujiie, Hideki Nakamura, Masashi Akiyama, Hiroshi Shimizu

Journal: Acta Derm. Venereol.. 2013 Sep;93(5):585-7.

 

Last Updated: 4 Sep 2013

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Epidermolysis bullosa simplex ogna revisited.
 

Author(s): Dimitra Kiritsi, Manuela Pigors, Iliana Tantcheva-Poor, Cordula Wessel, Meral Julia Arin, J├╝rgen Kohlhase, Leena Bruckner-Tuderman, Cristina Has

Journal: J. Invest. Dermatol.. 2013 Jan;133(1):270-3.

 

Last Updated: 9 Jan 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 "Epidermolysis Bullosa Simplex" returned 3 free, full-text review articles on human participants. First 3 results:

Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath.
 

Author(s): Pierre A Coulombe, Chang-Hun Lee

Journal: J. Invest. Dermatol.. 2012 Mar;132(3 Pt 2):763-75.

 

Epidermolysis bullosa simplex (EBS) is a rare genetic condition typified by superficial bullous lesions following incident frictional trauma to the skin. Most cases of EBS are due to dominantly acting mutations in keratin 14 (K14) or K5, the type I and II intermediate filament (IF) ...

Last Updated: 14 Feb 2012

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Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.
 

Author(s): Pierre A Coulombe, Michelle L Kerns, Elaine Fuchs

Journal: J. Clin. Invest.. 2009 Jul;119(7):1784-93.

 

Epidermolysis bullosa (EB) simplex is a rare genetic condition typified by superficial bullous lesions that result from frictional trauma to the skin. Most cases are due to dominantly acting mutations in either keratin 14 (K14) or K5, the type I and II intermediate filament (IF) proteins ...

Last Updated: 9 Jul 2009

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In this issue: The complexities of epidermolysis bullosa "simplex".
 

Author(s): Amy S Paller

Journal: J. Invest. Dermatol.. 2004 Jan;122(1):vi-vii.

 

Last Updated: 13 Feb 2004

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa Simplex

 

Last Updated: 8 Mar 2011

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Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa Simplex Dowling Meara

 

Last Updated: 17 Dec 2012

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Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa

 

Last Updated: 13 Oct 2011

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