Epidermolysis bullosa

What is it?
Epidermolysis bullosa is a inherited disease that causes blistering of the skin from minor injury or friction. There are 3 main types of epidermolysis bullosa, junctional, simplex and dystrophic. Another name for Epidermolysis bullosa is EB. It can be inherited by either one or both parents through genes. Sometimes the syndrome can appear randomly in the family even if no medical information has found the EB gene in the family’s history. Bullosa means blister and lysis means breakdown, therefore epidermolysis bullosa means breakdown and blistering of the skin. Epidermolysis bullosa was first recognized in 1886 and was used to describe a family affected by this disease.

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Affects of EB
Simplex is the most common form of the disorder, people who have simplex normally have problems with their teeth, toe and finger nails, hair loss and thinning hair. This is because the genes cannot produce enough keratin, a protein that creates the structure and toughness of the skin. This means that the skin can be easily damaged and leads to blistering or could even be fragile enough to fall apart. Dystrophic EB is when the collagen VII is defective. Normally this protein creates anchoring fibres, a fibre that attaches the epidermis to the dermis. But when this collagen VII is defective, the anchoring fibres are either not there or there isn’t enough of them to effectively work. This also cause skin to blister badly. Any part of the body that has collagen VII can be effected for example eyes, esophagus, stomach, intestine, mouth, skin, etc.
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There is no current treatment for EB, but scientists are currently testing and modifying cells to hopefully in the future be able to replace the faulty genes to the corrected gene.
Benefits & Limitations:
The benefits for this disease is if they find a cure or gene replacement for the disease then they can also achieve curing hair loss and hair thinning because the protein they will replace affects baldness and hair thinning.
The limitations are that you cannot get injured, otherwise your skin will get badly blistered and will take a longer period to heal then healthy people.
In united states approximately 12,500 people are currently affected. 50 epidermolysis bullosa cases every 1 million births. 54 cases in every 1 million births in norway, 7.8 in japan and 9.6 in croatia.
Cultural & ethnical:
EB is a disease that is passed down from each generation, it has the same affect on anybody in the world. Men and women are affected equally and every culture is effected the same as the other.