Junctional epidermolysis bullosa can show up at birth. Large, open sores are common and can lead to infections and loss of body fluids. As a result, severe forms of the disease may be fatal. The blisters may appear in response to minor injury, even from heat, rubbing or scratching. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or stomach.
Epidermolysis bullosa is inherited, and it usually shows up in infants or young children. Some people don't develop symptoms until they're teens or young adults. Epidermolysis bullosa has no cure, but mild forms may improve with age. Treatment focuses on caring for blisters and preventing new ones.
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Usually epidermolysis bullosa blisters are noticed during infancy. But it's not uncommon for them to appear when a toddler first begins to walk or when an older child begins new activities that cause more friction on the soles of the feet. Contact your health care provider if you or your child develops blisters for an unknown reason.
For infants, severe blistering can be life-threatening. Depending on the type of epidermolysis bullosa, blistering may occur in the top layer of skin epidermis , the bottom layer dermis or the layer that separates the two basement membrane zone. In an autosomal dominant disorder, the changed gene is a dominant gene. It's located on one of the nonsex chromosomes, called autosomes. Only one changed gene is needed for someone to be affected by this type of condition.
To have an autosomal recessive disorder, you inherit two changed genes, sometimes called mutations. You get one from each parent. Their health is rarely affected because they have only one changed gene.
