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Genetic and Rare Diseases Information Center (GARD)

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Junctional epidermolysis bullosa


Other Names for this Disease
  • Epidermolysis bullosa atrophicans
  • Epidermolysis bullosa, junctional
  • JEB
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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]
Last updated: 7/22/2011

References

  1. Junctional Epidermolysis Bullosa. Dystrophic Epidermolysis Bullosa Research Association of America. 2011; http://www.debra.org/junctional. Accessed 7/11/2011.
  2. Junctional Epidermolysis Bullosa. Gene Reviews. April 2008 ; http://www.ncbi.nlm.nih.gov/books/NBK1125. Accessed 7/11/2011.
  3. Junctional Epidermolysis Bullosa. Genetics Home Reference . April 2009 ; http://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa. Accessed 7/11/2011.
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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.
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In Depth Information

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