Epidermolysis Bullosa
What is Epidermolysis Bullosa?
Epidermolysis Bullosa (EB) is the term used to describe a genetically-determined skin disorder. It is a group of blistering skin conditions where the skin is so fragile in people with EB that even minor rubbing may cause blistering. All forms of EB are genetic in origin and the genes responsible for most of the sub-types of the condition are now known. It is estimated that 2 to 4 out of every 100,000 people, or up to 12,000 people in the United States, have some form of EB. It occurs in all racial and ethnic groups and affects males and females equally. There are three major types of EB; Simplex, Dystrophic and Junctional. These vary from relatively mild to incapacitating, crippling, and sometimes fatal disorders. Within these there are over twenty different subtypes of EB, each with their own characteristic symptoms. In severe EB, blisters are not confined to the outer skin. They may develop inside the body, in such places as the linings of the mouth, oesophagus, stomach, intestines, upper airway, bladder, and the genitals. Bullosa means blister and lysis mean breakdown. Therefore Epidermolysis Bullosa means the breakdown and blistering of the skin.
General Information about Skin:
What Causes Epidermolysis Bullosa?
Most people with EB have inherited the condition through faulty genes they have received from one or both parents. The faulty genes determine inherited character passed for parent to child and cause abnormalities in the skin. They also govern every–body function, such as the formation of proteins in the skin, including collagen and keratin. When any of these proteins is bad, the skin becomes so fragile it can literally fall apart. In an autosomal dominant form of EB, the disease gene is inherited from only one parent who has the disease, and there is a 50% chance with each pregnancy that a baby will have EB. In the autosomal recessive form, the disease gene is inherited from both parents. Neither
Epidermolysis Bullosa (EB) is the term used to describe a genetically-determined skin disorder. It is a group of blistering skin conditions where the skin is so fragile in people with EB that even minor rubbing may cause blistering. All forms of EB are genetic in origin and the genes responsible for most of the sub-types of the condition are now known. It is estimated that 2 to 4 out of every 100,000 people, or up to 12,000 people in the United States, have some form of EB. It occurs in all racial and ethnic groups and affects males and females equally. There are three major types of EB; Simplex, Dystrophic and Junctional. These vary from relatively mild to incapacitating, crippling, and sometimes fatal disorders. Within these there are over twenty different subtypes of EB, each with their own characteristic symptoms. In severe EB, blisters are not confined to the outer skin. They may develop inside the body, in such places as the linings of the mouth, oesophagus, stomach, intestines, upper airway, bladder, and the genitals. Bullosa means blister and lysis mean breakdown. Therefore Epidermolysis Bullosa means the breakdown and blistering of the skin.
General Information about Skin:
What Causes Epidermolysis Bullosa?
Most people with EB have inherited the condition through faulty genes they have received from one or both parents. The faulty genes determine inherited character passed for parent to child and cause abnormalities in the skin. They also govern every–body function, such as the formation of proteins in the skin, including collagen and keratin. When any of these proteins is bad, the skin becomes so fragile it can literally fall apart. In an autosomal dominant form of EB, the disease gene is inherited from only one parent who has the disease, and there is a 50% chance with each pregnancy that a baby will have EB. In the autosomal recessive form, the disease gene is inherited from both parents. Neither