Junctional epidermolysis bullosa

Disease 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.[3965] 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. [3966][3967]  JEB is inherited in an autosomal recessive pattern. It is caused by mutations in the LAMB3, COL17A1, or LAMC2, and LAMA3 genes.[3965]There is no cure for JEB. Treatment is focused on management of blistering and prevention of secondary infections.[3966]

Synonyms

• JEB
• Epidermolysis bullosa, junctional
• Epidermolysis bullosa atrophicans