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Bart Syndrome

Bart Syndrome 

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  #1  
01-01-2014, 01:27 PM
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Bart Syndrome

Bart syndrome is a genetic disorder characterized by the association of congenital localized absence of skin, epidermolysis bullosa, lesions of the mouth mucosa, and dystrophic nails.
The disease is inherited by autosomal dominant transmission with complete penetrance but variable expression. This means that children of an affected parent that carries the gene have a 50% chance of developing the disorder, although the extent to which they are affected is variable.
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  #2  
01-01-2014, 02:10 PM
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Re: Bart Syndrome

Fascinating, but so sad...
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  #3  
01-01-2014, 03:43 PM
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Re: Bart Syndrome

so many weird but fascinating diseases humans can develop
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  #4  
01-01-2014, 05:23 PM
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Re: Bart Syndrome

How do they fix that
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  #5  
01-01-2014, 05:54 PM
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Re: Bart Syndrome

Looks painful.
  #6  
01-02-2014, 12:16 AM
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Re: Bart Syndrome

Ohhh...poor little sweetheart!
  #7  
01-02-2014, 03:07 AM
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Re: Bart Syndrome

Never heard of this...sounds terribly painful!
  #8  
01-02-2014, 05:26 AM
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Re: Bart Syndrome

i thought it was to do with watching too much simpsons
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  #9  
01-02-2014, 05:58 AM
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Re: Bart Syndrome

Poor baby! What can be done for it, I wonder? Do skin grafts take? Or does skin grow eventually on its own? Gonna have to look this one up, I think.
  #10  
01-02-2014, 06:01 AM
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Re: Bart Syndrome

"There is no cure or great therapy for Bart syndrome. Gene therapy is currently being investigated. Treatment of symptoms is the goal of therapy. Saline compresses and topical antibiotics can be applied to the affected areas to keep the area clean and prevent infection. In the case of inflammation, topical steroids may be used. Severely affected patients are treated in a burn unit. Gentle bathing and cleansing are followed by protective emollient and nonadherent dressing application. In dystrophic EB control of cutaneous infections is important because scarring can lead to fusion of digits and limb contractures."
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