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Genetics

Epidermolysis bullosa (EB) is a disorder that is genetic, this means that the cause for this is found in the genes of a human.

The processes in our genes are complicated and difficult to understand, there are still many unanswered questions. Of course, there are always many questions and misconceptions about inheritance in EB. In this section we'll summarize the complex processes, which play a role in the inheritance, and try to bring you closer to an understanding of the effects of the genetic changes that lead to EB.

Important points in a nutshell

  • Genes are the carriers of our heredity factors.
  • The cause of EB lies in changes in individual genes.
  • These altered genes can be inherited in different ways:
  • Recessive:
    • The disease usually occurs in this familiy as a complete surprise.
    • Usually both parents (healthy) are carriers of the gene.
  • Dominant:
    • Usually there are already one or more affected persons in a family.
    • A parent usually is affected by EB.
  • There are a number of exceptions to this rule and cases, even in EB!
  • A detailed genetic counseling is important for a better understanding of EB.
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