Epidermolysis bullosa simplex is a horrible skin blistering disease. It is genetic in nature. Specifically it results from mutation of a type of keratin subunit of intermediate filaments. Because the IFs of someone with this disease are so drastically impaired, their epidermis is not correctly anchored to their dermis (the layer of their skin aren't held together right). As a result, these patients develop severe blisters with even extremely soft contact, so shaking hands with them is NOT a good idea.

Simplex is merely one form of Epidermolysis Bullosa. It is the least severe form and typically, the sufferers of simplex are not terribly fragile.

They types of EB are as follows:

  • EB Simplex-The least severe of the three types
  • Junctional EB-mutations in genes encoding (Beta 4 integrin, Laminin 5, Alpha 6, and collagen XVII) contribute to defects within hemidesmosomes
    • Subtype Herlitz
    • Subtype Non-Herlitz
    • Subtype Junctional EB with associated Pyloric Atresia
  • Dystrophic EB

As the godmother of two children with EB, one with Recessive Dystrophic and one with Simplex-DM, I have spent many a years being frustrated at the lack of a cure. It's such a rare disorder that my godchildren are truly 2 in a million.

It took years to get over the fact that Cass was so breakable. I used to avoid hugging her because I knew it would cause blistering. To watch her bandaged from head to toe just broke my heart.

Over time, I learned that I just had to love her while we had her. She may be fragile, but she still needs love.

Walt was adopted and touching him doesn't tend to cause blisters. The simplex affects his feet and hands and anywhere that gets excessive rubbing, like a waistline.

The average life-span of a person with RDEB is approximately 22 years.

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