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Genetic and Rare Diseases Information Center (GARD)

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Epidermolysis bullosa simplex


Other Names for this Disease
  • Epidermolysis bullosa intraepidermic
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Overview


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). [1] 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.[2] Treatment plans differ depending on severity but typically focus on preventing formation of blisters, caring for blistered skin, and treating infection.[3]
Last updated: 7/22/2011

References

  1. Fine JD. Orphanet Journal of Rare Diseases (OJRD). May 2010; http://www.ojrd.com/content/5/1/12. Accessed 7/6/2011.
  2. Epidermolysis Bullosa Simplex. Genetics Home Reference. April 2007; http://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex. Accessed 1/19/2011.
  3. Epidermolysis Bullosa. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). July, 2009; http://www.niams.nih.gov/Health_Info/Epidermolysis_Bullosa/default.asp#6. Accessed 1/19/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Epidermolysis bullosa simplex. This website is maintained by the National Library of Medicine.
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information