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Diseases

Genetic and Rare Diseases Information Center (GARD)

Junctional epidermolysis bullosa


Other Names for this Disease
  • JEB
  • Epidermolysis bullosa, junctional
  • Epidermolysis bullosa atrophicans
Related Diseases
  • Epidermolysis bullosa
  • Generalized junctional epidermolysis bullosa, non-Herlitz type
  • Junctional epidermolysis bullosa inversa
  • Junctional epidermolysis bullosa with pyloric atresia
  • Junctional epidermolysis bullosa, Herlitz type
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Overview

Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.  JEB is separated into two categories: the Herlitz type and the Non-Herlitz type.[1] The Herlitz type of JEB is very severe, and individuals with this condition often do not survive infancy. The Non-Herlitz type includes several subtypes that cause mild to severe blistering of the skin present at birth or shortly thereafter. [2][3]  JEB is inherited in an autosomal recessive pattern. It is caused by mutations in the LAMB3, COL17A1, or LAMC2, and LAMA3 genes.[1]There is no cure for JEB. Treatment is focused on management of blistering and prevention of secondary infections.[2]
Last updated: 2/9/2016

References

  1. Junctional Epidermolysis Bullosa. Dystrophic Epidermolysis Bullosa Research Association of America. http://www.debra.org/junctional. Accessed 2/9/2016.
  2. Junctional Epidermolysis Bullosa. Gene Reviews. January 2, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1125.
  3. Junctional Epidermolysis Bullosa. Genetics Home Reference. September 2009; http://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Junctional epidermolysis bullosa. 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.

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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
Other Names for this Disease
  • JEB
  • Epidermolysis bullosa, junctional
  • Epidermolysis bullosa atrophicans
Related Diseases
  • Epidermolysis bullosa
  • Generalized junctional epidermolysis bullosa, non-Herlitz type
  • Junctional epidermolysis bullosa inversa
  • Junctional epidermolysis bullosa with pyloric atresia
  • Junctional epidermolysis bullosa, Herlitz type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.