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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Is Epidermolysis Bullosa A Genetic Disorder?

hi, im doing a school prject and i was just wondering how does a chils inherit the eb? is it sex linked or autosomal? if so, what would be the the chromosome that is defected? is it chromosal? if yes, what chromosme is missing. id much appreciate this answers to be part of my concluding summart. thank you
Mon, 9 Mar 2015
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Anesthesiologist,  's  Response
hello dear..
yes it is an autosomal inheritence..
actually there are two types
-simplex and
-junctional variety
EBsimplex: autosomal dominant variety..keratin associated with keratin problem (KRT5 and KRT14)
junctional EB: it is autosomal recessive variant . laminin and collagen problem
third less common variety is Dystrophic EB
in EB skin is very fragile to even trivial trauma leading to formation of blisters..
this causes infection and lot of other problems which may lead to death in some cases..
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Is Epidermolysis Bullosa A Genetic Disorder?

hello dear.. yes it is an autosomal inheritence.. actually there are two types -simplex and -junctional variety EBsimplex: autosomal dominant variety..keratin associated with keratin problem (KRT5 and KRT14) junctional EB: it is autosomal recessive variant . laminin and collagen problem third less common variety is Dystrophic EB in EB skin is very fragile to even trivial trauma leading to formation of blisters.. this causes infection and lot of other problems which may lead to death in some cases..