EB BUTTERFLY FOUNDATION
Epidermolysis Bullosa is a rare genetic skin condition that makes the skin extremely fragile. 1 in 17 000 live births are affected. Anyone can be born with EB, no matter race or skin color. It is not a contagious because it is a genetic disease. Currently, there is no cure for EB, and treatment is focused on wound care and pain management. There are two layers of skin: outer layer, the epidermis and the inner layer, the dermis. There are pillars that prevent these two layers from moving independently from each other. In a person with EB, those pillars are missing. That’s why gentle skin contact can cause blistering, open wounds and sores. The pain of these wounds compares to third degree burns. Most types of EB are inherited. There are 13 major genes responsible for most cases of EB. The errors of the genes result in defects in the proteins that bind the epidermis to the dermis. It can be passed in one of three ways: Dominant: one parent caries the gene for EB is affected by the condition themselves. 50% chance of passing it on Recessive: Both parents carry the gene Unaffected and usually don’t know they have the gene 25% chance of passing it on Spontaneous mutation: Neither parent carries EB The gene mutates spontaneously in either the sperm or egg before conception EB is classified by the layer of the skin that is affected. There are 3 main types: Simplex: Mild form Lack of adhesion of the skin right above the basement membrane Blistering on hands and feet Blistering all over body With good wound care and pain management, these patients have full lives. 70% of EB patients have this type Dystrophic: More serious form of EB Lack of adhesion of the skin under the basement membrane 25% of all EB patients has dystrophic EB These patients have a reduced life expectancy The blisters tend to heal with scarring Junctional: Lack of adhesion of the skin through the basement membrane 5% of EB patients have this type Most severe type of EB, outlook is usually not great with these types of EB. Babies die within first 2 years of life due to blisters in the oesophagus and pharynx. Diagnosis is made by taking a small skin biopsy and examining it under a microscope. A dermatologist identifies where skin separation occurs.
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WHAT IS EB?
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Website by Thorsenservices
EB BUTTERFLY FOUNDATION
Epidermolysis Bullosa is a rare genetic skin condition that makes the skin extremely fragile. 1 in 17 000 live births are affected. Anyone can be born with EB, no matter race or skin color. It is not a contagious because it is a genetic disease. Currently, there is no cure for EB, and treatment is focused on wound care and pain management. There are two layers of skin: outer layer, the epidermis and the inner layer, the dermis. There are pillars that prevent these two layers from moving independently from each other. In a person with EB, those pillars are missing. That’s why gentle skin contact can cause blistering, open wounds and sores. The pain of these wounds compares to third degree burns. Most types of EB are inherited. There are 13 major genes responsible for most cases of EB. The errors of the genes result in defects in the proteins that bind the epidermis to the dermis. It can be passed in one of three ways: Dominant: one parent caries the gene for EB is affected by the condition themselves. 50% chance of passing it on Recessive: Both parents carry the gene Unaffected and usually don’t know they have the gene 25% chance of passing it on Spontaneous mutation: Neither parent carries EB The gene mutates spontaneously in either the sperm or egg before conception EB is classified by the layer of the skin that is affected. There are 3 main types: Simplex: Mild form Lack of adhesion of the skin right above the basement membrane Blistering on hands and feet Blistering all over body With good wound care and pain management, these patients have full lives. 70% of EB patients have this type Dystrophic: More serious form of EB Lack of adhesion of the skin under the basement membrane 25% of all EB patients has dystrophic EB These patients have a reduced life expectancy The blisters tend to heal with scarring Junctional: Lack of adhesion of the skin through the basement membrane 5% of EB patients have this type Most severe type of EB, outlook is usually not great with these types of EB. Babies die within first 2 years of life due to blisters in the oesophagus and pharynx. Diagnosis is made by taking a small skin biopsy and examining it under a microscope. A dermatologist identifies where skin separation occurs.
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