Epidermolysis Bullosa, Junctional

Overview

Type of disease: Rare conditions

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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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