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Diseases

Genetic and Rare Diseases Information Center (GARD)

Epidermolysis bullosa simplex, generalized


Other Names for this Disease
  • EBS, generalized
  • Generalized EBS
  • Epidermolysis bullosa simplex, Koebner type
  • EBS-K
  • Epidermolysis bullosa simplex, generalized non-Dowling-Meara
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Overview

Epidermolysis bullosa simplex, generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface.[1][2] Though it is not a common feature of this type, scarring may occur. There may also be mild involvement of mucous membranes, fingernails and toenails, and localized thickening of the skin on the soles of the feet and the palms of the hands that increases with age.[2] All four major types of epidermolysis bullosa simplex, including the genralized type, are caused by mutations in the KRT5 and KRT14 genes.[1][2] This condition is usually inherited in an autosomal dominant fashion.[1]
Last updated: 6/10/2015

References

  1. Epidermolysis bullosa simplex. Genetics Home Reference (GHR). May 2013; http://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex.
  2. EB Simplex: Koebner Subtype of EB Simplex. Dystrophic Epidermolysis Bullosa Research Association of America (DebRA). http://www.debra.org/simplex#koebner. Accessed 6/10/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Epidermolysis bullosa simplex, generalized. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Epidermolysis bullosa simplex, generalized. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • EBS, generalized
  • Generalized EBS
  • Epidermolysis bullosa simplex, Koebner type
  • EBS-K
  • Epidermolysis bullosa simplex, generalized non-Dowling-Meara
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.