Epidermolysis bullosa (EB)
Epidermolysis bullosa (EB) is caused by an inherited genetic mutation that makes skin more fragile.
A genetic mutation occurs wheninstructions carried in certain genes become 'scrambled'. This results in some of the body's processes not working in the normal way.
All genes in your body come in pairs. You receive one half from your mother and the other half from your father.
Genetic conditions such as EB and the mutations which causethemcan be passed down through families in two ways:
In EB, some variants are autosomal dominant and others are autosomal recessive.
Epidermolysis bullosa simplex (EBS) is an autosomal dominant condition. If you have EBS, one of your parents also has a history of the condition and has passed the mutated gene to you. However, if their symptoms are mild, their condition may not have been diagnosed.
You may be the first in your family to be affected. In these cases, the mutation will have occurred in the womb before you were born. Neither of your parents carries the mutation and you havea new mutation.
If you go on to have children, they'll have a 50% chance of developing EBS.
Junctional epidermolysis bullosa (JEB) is an autosomal recessive condition. If you have JEB, both your parents are carriers of the mutated gene but they don't have symptoms.
Your children are only at risk of developing JEB if your partner is also a carrier of a mutated gene known to be associated with JEB. It's difficult to estimate exactly how many people are carriers of the various JEB mutated genes, butthe number is thought to be low.
If you and your partner are both carriers of a JEB mutated gene, your children have aone-in-four chance of developing the condition.
Depending on the particular variant, dystrophic epidermolysis bullosa can be either autosomal recessive or dominant.
Dominant DEB is autosomal dominant and the other types are autosomal recessive.
Human skin is made of three layers:
The epidermis and dermis meet at a point known as the basement membrane zone (BMZ). This contains specialised proteins that keep the two layers stuck securely together.
Faulty genescan causeone or more proteins in the BMZ to not work properly. This meanstrauma or friction to an area of skin could result in the epidermis and dermis becoming unstuck. If the two layers become separated, a space is created which fills with fluid to form a Blisters .
Epidermolysis bullosa (EB) is a general term used to describe a group of rare, inherited skin disorders that cause the skin to become very fragile.
The symptoms of epidermolysis bullosa (EB) can vary in severity, ranging from mild to life-threatening.
Epidermolysis bullosa (EB) is caused by an inherited genetic mutation that makes the skin more fragile.
Epidermolysis bullosa (EB) is usually diagnosed in babies and children.
There is currently no cure for epidermolysis bullosa (EB), but treatment can help to ease and control the symptoms.
Kayla Grant is six and has epidermolysis bullosa (EB). Her skin is so fragile that she cannot be hugged. Her friends and family call her the butterfly girl.