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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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How To Confirm Epidermolysis Bullosa Infection?

"Is there a test to know if I am carrying the epidermolysis bullosa ( scalded skin syndrom ) ? because my mother has a history with that disease .five of her childeren died from it , but me and my brother are the only two who has been born normal and healthy ..."
Mon, 24 Aug 2015
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General & Family Physician 's  Response
Hello,
Welcome to Health Care Magic. I read carefully your query and I understand your concern.
Epidermolysis bullosa is a inherited skin disease not a infection, it cause skin blister in response to minor injury, heat.
The infection (bacterial infection) is one of the complications that happen when you have epidermolysis bullosa.
You have a positive family history for this and from this you have a risk to have this disease depending on the type that your parents suffer.
There are three type of this disease and they vary from them for their inherited way.
Epidermolysis bulosa simplex, it is an autosomal dominant inheritance pattern. If one parent has the single faulty gene, you have a 50 percent chance of having the defect.
Junctional epidermolysis bullosa, it is when both of your parents carry one copy of the defective gene and passed on the defective gene this is an autosomal recessive inheritance pattern. In this case if both parents carry one faulty gene, you have a 25 percent chance of developing the disorder.
Dystrophic epidermolysis bullosa. This type can be either dominant or recessive.
To diagnose which of them has your mother and to know if you have this disease you should have a biopsy skin and a genetic consultation. I recommend you to go to a dermatologist and genetic doctor for your problem.
Hope this answers your question. If you have additional questions or follow up questions then please do not hesitate in writing to us. I will be happy to answer your questions.
Kind regard,
Dr .Marsida JANKO
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How To Confirm Epidermolysis Bullosa Infection?

Hello, Welcome to Health Care Magic. I read carefully your query and I understand your concern. Epidermolysis bullosa is a inherited skin disease not a infection, it cause skin blister in response to minor injury, heat. The infection (bacterial infection) is one of the complications that happen when you have epidermolysis bullosa. You have a positive family history for this and from this you have a risk to have this disease depending on the type that your parents suffer. There are three type of this disease and they vary from them for their inherited way. Epidermolysis bulosa simplex, it is an autosomal dominant inheritance pattern. If one parent has the single faulty gene, you have a 50 percent chance of having the defect. Junctional epidermolysis bullosa, it is when both of your parents carry one copy of the defective gene and passed on the defective gene this is an autosomal recessive inheritance pattern. In this case if both parents carry one faulty gene, you have a 25 percent chance of developing the disorder. Dystrophic epidermolysis bullosa. This type can be either dominant or recessive. To diagnose which of them has your mother and to know if you have this disease you should have a biopsy skin and a genetic consultation. I recommend you to go to a dermatologist and genetic doctor for your problem. Hope this answers your question. If you have additional questions or follow up questions then please do not hesitate in writing to us. I will be happy to answer your questions. Kind regard, Dr .Marsida JANKO