What is Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related?
Herlitz junctional epidermolysis bullosa (H-JEB) is an inherited disease that causes severe blistering on the skin. Infants with H-JEB frequently also have internal blistering on the lining of the nose, mouth, esophagus, trachea, rectum, stomach, intestines, and eyes. These symptoms are present from birth. Occasionally people with the disease survive into their teens, however 87% die in the first year of life. People with H-JEB lack anchors to hold the layers of their skin together. They develop large, fluid-filled blisters in response to any trauma, even something as minor as increased room temperature. Skin chafes and wears away, leaving the person open to infection. Granulation tissue, a kind of soft, pink, bumpy, moist skin, is often seen around the nose, mouth, ears, fingers, and toes, as well as in areas that receive friction, such as the buttocks and back of the head. This tissue bleeds easily and can be a site of fluid loss. Infants and children with the disease often develop a
