Butterfly Children, What is Epidermolysis Bullosa?

What is Epidermolysis Bullosa?

Some call them Butterfly children, some call them Cotton Wool Babies, others call them Crystal Skin Children. Each of these names refer to the fragile skin of children with EB. Their skin truly does seem to be as fragile as a Butterflies wings, but why does their skin blister so easily? I don't want to go into too much detail about the scientific side of this condition as I am not an expert. I do however believe that in order to understand exactly what we are trying to prevent, you need a little bit of Information. I'll try my best to explain EB...

According the the Mayo Clinic: "Epidermolysis bullosa is a group of rare diseases that cause the skin to blister. The blisters may appear in response to minor injury, heat or friction from rubbing, scratching or adhesive tape. In severe cases, the blisters may occur inside the body, such as the lining of the mouth or intestines."  So there ya go, blisters that pop up for seemingly no reason at all...Fun!

There are several different types of EB . Brian has epidermolysis bullosa simplex (EBS) and in his case it is Keratin 14 that is affected. KRT14 is a protein anchor in between the layers of skin, the epidermis and the dermis. Normally these anchors hold the layers of skin together, but in Brian's case they do not. The protein anchors are defective and easily broken. This allows the layers of skin to rub together causing blisters from friction and pressure.

Because EB is so rare, it has been difficult finding reputable information about the condition. Some articles explain EB perfectly and it sounds exactly like the symptoms that Brian experiences. They explain the scarring and pain that goes along with EB. Other articles claim that the simplex form primarily affects the hands and feet, heal without scarring and gets better with age. This is not the case for Brian. There hasn't been a single day in the 4+ years we have been together that Brian has been blister-free and there certainly is scarring.

Towards the beginning of our relationship, Brian had a large cluster of blisters on his inner thigh that just wouldn't heal. It moved down his leg until almost his whole thigh was one big blister. (I have included a picture below showing the scar that was left after it finally healed). He is a typical man and wouldn't go to the doctor until I forced him. Well Brian was right and the dermatologist wasn't much help. He just gave him some cream for the pain and told him to go pantsless as much as possible.

Exactly how rare is EB?

According to DEBRA International, an organization that provides resources for people living with EB, EB affects approximately 1 in 17,000 live births. There are currently only around 500,000 people living with EB worldwide....pretty rare.

We met with a geneticist in March of 2015 and we half expected him to have seen loads of patients with this condition...this was not the case. We asked them how many patients they have seen with EB in the past...NONE! Dr. B's words were something along the lines of, "They talk about it all the time in med school when we are learning about the layers of the skin, but no one actually has it". He was so interested in seeing a living person with the condition, he asked Brian to strip down and show him what it looked like!

What do the blisters look like?

Brian's mom got some childhood pictures together that show what EB looks like. I apologize for the quality of the pictures. Many of them were in an adhesive photo album and I didn't want to risk ruining them. Several of these are pictures of pictures in the albums.

Below are some clearer, more recent pictures that show Brian's EB. Nearly every part of his body is affected. Two of these pictures are of Brian's ankles and the other two are of his outer thighs. The blisters on his ankles were both caused by wearing boots, something that people generally do quite often. The blisters on his thigh were caused by the seam of his pants...pants are another crucial part of most peoples lives. 

Brian has many scars from his condition. The large scar on the left is the one that was left from the blisters on his inner thigh. The picture on the bottom is of another large scar on his arm. The scar on the right is also on Brian's arm. We have had some fun with this one coming up with different things it looks like. I thought it looked like a jouster and Brian saw a matador. 

Brian's scars do seem to fade over time and when he gets a tan they are definitely less noticeable. While being left with marks is certainly less than ideal, dealing with the pain seems to be Brian's biggest obstacle. We took a trip to Florida in March and walking around the theme parks all day took a toll on his skin. We stopped several times throughout the day as his feet and legs got continually more blistered.

Brian has suffered with EB since birth. He has told me about his parents sneaking in his room at night to pop the blisters, hoping he wouldn't wake up. Brian's Mom has told me about blisters on his gums when he was bottle feeding. We are taking every possible precaution to make sure our children don't wind up sharing these memories with their father.

Hopefully I have explained EB a little better and helped you understand why we are trying to stop our children from inheriting this painful condition. I apologize for the graphic pictures, but this is what Brian lives with daily. I just can't imagine watching our own children grow up like this if we can do something about it.

If I didn't explain something quite clearly enough or you have any other questions, please feel free to contact me. Brian is always willing to talk about EB when someone is interested.

-Emily