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.

Last Updated: 7 Nov 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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

In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe.
 

Author(s): Katarzyna B Gostyńska, Jeroen Bremer, Krista K van Dijk-Bos, Richard Sinke, Anna Maria G Pasmooij, Marcel F Jonkman

Journal: Acta Derm. Venereol.. 2017 01;97(1):105-107.

 

Last Updated: 3 May 2016

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Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.
 

Author(s): Lilli Winter, Matthias Türk, Patrick N Harter, Michel Mittelbronn, Cornelia Kornblum, Fiona Norwood, Heinz Jungbluth, Christian T Thiel, Ursula Schlötzer-Schrehardt, Rolf Schröder

Journal:

 

Mutations of the human plectin gene (PLEC) on chromosome 8q24 cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD). In the present study we analyzed the downstream effects of PLEC mutations on plectin protein expression and localization, the structure ...

Last Updated: 28 Apr 2016

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The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.
 

Author(s): Dharshini Sathishkumar, Elizabeth Orrin, Ana Terron-Kwiatkowski, Fiona Browne, Anna E Martinez, Jemima E Mellerio, Malobi Ogboli, Susannah Hoey, Linda Ozoemena, Lu Liu, David Baty, John A McGrath, Celia Moss

Journal: J. Invest. Dermatol.. 2016 Mar;136(3):719-21.

 

Last Updated: 23 Feb 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 "Epidermolysis Bullosa Simplex" returned 4 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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Diacerin for the Treatment of Epidermolysis Bullosa Simplex
 

Status: Not yet recruiting

Condition Summary: Epidermolysis Bullosa Simplex

 

Last Updated: 9 Jun 2015

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Last Updated: 28 Sep 2017

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Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa Simplex; Epidermolysis Bullosa Simplex Kobner; Weber-Cockayne Syndrome

 

Last Updated: 22 Oct 2017

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