Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Epidermolysis bullosa simplex, generalized


Other Names for this Disease

  • EBS, generalized
  • EBS-K
  • Epidermolysis bullosa simplex, generalized non-Dowling-Meara
  • Epidermolysis bullosa simplex, Koebner type
  • Generalized EBS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Epidermolysis bullosa simplex, Koebner type is a form of generalized epidermolysis bullosa simplex. 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 Koebner 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: 5/5/2010

References

  1. Epidermolysis bullosa simplex. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=epidermolysisbullosasimplex. Accessed 5/5/2010.
  2. EB Simplex: Koebner Subtype of EB Simplex. Dystrophic Epidermolysis Bullosa Research Association of America (DebRA). 2003; http://www.debra.org/modules.php?op=modload&name=News&file=article&sid=18. Accessed 5/5/2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Epidermolysis bullosa simplex, generalized have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • MayoClinic.com has an information page about epidermolysis bullosa. Click on the link above to access this 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

  • eMedicine has 2 articles on this topic from the perspective of Dermatology and Pediatrics. You may need to register to view the information online, but registration is free. Click on the links above to view the articles from this medical reference Web site.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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
  • EBS-K
  • Epidermolysis bullosa simplex, generalized non-Dowling-Meara
  • Epidermolysis bullosa simplex, Koebner type
  • Generalized EBS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.