A child with Epidermolysis Bullosa (EB) is afflicted with a type of inherited skin disorder that causes blisters after even the mildest trauma. Most commonly, EB causes blisters on the skin, but EB can also affect the mouth, esophagus, lungs, muscles, eyes, nails and teeth. Depending on the type of EB, the effects of the disease can be mild, disabling, or life threatening. EB is never contagious because it is a genetic disease.
There are three types of EB, all caused by a different genetic mutation: EB simplex (EBS), Junctional EB (JEB) and Dystrophic EB (DEB). EB simplex is the mildest and most common form of EB, while Junctional EB and Dystrophic EB are relatively less common and affect the patient more severely.
There are three major sub-types of Junctional EB. Herlitz, non-Herlitz and Junctional EB with associated Pyloric Atresia.
Herlitz JEB is the more severe form of the condition. From birth or early infancy, affected individuals have blistering over large regions of the body. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. As a result, many affected children have chronic malnutrition and slow growth. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Granulation tissue bleeds easily and profusely, making affected infants susceptible to serious infections and loss of necessary proteins, minerals, and fluids. Additionally, a buildup of granulation tissue in the airway can lead to a weak, hoarse cry and difficulty breathing.
Other complications of Herlitz JEB can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that restrict movement, and hair loss (alopecia). Because the signs and symptoms of Herlitz JEB are so severe, infants with this condition usually do not survive beyond the first year of life.