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Junctional epidermolysis bullosa
Other Names for this Disease
- Epidermolysis bullosa atrophicans
- Epidermolysis bullosa, junctional
- Epidermolysis bullosa
- Junctional epidermolysis bullosa inversa
- Junctional epidermolysis bullosa with pyloric atresia
- Junctional epidermolysis bullosa, Herlitz type
- Junctional epidermolysis bullosa, non-Herlitz type
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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. 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.  JEB is inherited in an autosomal recessive pattern. It is caused by mutations in the LAMB3, COL17A1, or LAMC2, and LAMA3 genes.
- Junctional Epidermolysis Bullosa. Dystrophic Epidermolysis Bullosa Research Association of America. http://www.debra.org/junctional. Accessed July 11, 2011.
- Junctional Epidermolysis Bullosa. Gene Reviews. http://www.ncbi.nlm.nih.gov/books/NBK1125. Accessed July 11, 2011.
- Junctional Epidermolysis Bullosa. Genetics Home Reference . http://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa. Accessed July 11, 2011.
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