Epidermolysis Bullosa or EB is a genetic condition that causes blistering and tearing of the skin. There are several different forms of EB that range from mild or lethal. Blisters occur with any minor trauma or friction and can be extremely painful. While everyone who has it, was born with it, some mild versions may not show any symptoms until they start crawling, or even walking. Some can be even later than that depending on the severity.
My symptoms started a few months after birth when my mom first started putting shoes on me. I wasn’t even walking yet. My hand blisters didn’t manifest until I was much older. My 8-year-old daughter didn’t get any symptoms until she started using the monkey bars at school. Hand blistering from monkey bars is actually very common. The difference with her is that calluses would not form over time like they should and she kept blistering. She was diagnosed about two year ago during first grade. For her, she keeps gloves at school if she wants to use the bars, but she’s pretty much moved on from that. She hasn’t had an outbreak in about a year because she has learned to be pretty careful.
EB is due to a mutation in our genes. I was a spontaneous mutation, while my daughter’s EB was passed on by me. The basic understanding is that there is a defect within the layers of our skin.
There are three main types: Simplex (which my daughter and I both have), Dystrophic, Junctional.
EB Simplex: The most common form of EB. It develops on the outer layer of the skin and primarily affects the palms of the hands, or the feet. The blisters usually heal without scarring. All skin cells are affected however, so while it’s most common on hands and feet, it is possible to blister in other places.
Junctional EB: This type may be severe, with blisters beginning as an infant. A baby with this condition may develop a hoarse-sounding cry for all the blisters and scarring of the vocal cords.
Dystrophic EB: This is commonly discovered shortly after birth. They may be missing skin, or have blisters due to the trauma of birth. This is caused when the layers of the skin will not join properly together.
I love this video by Debra UK. It does a great job of explaining a lot about EB in fairly simple terms.
There is no cure at this time and no real treatment. You have to try to prevent trauma from happening, and when it does, you have to manage it using wound care techniques and pain management.
The symptoms of EB vary by type, but the common ones are below. It is important to make note of the symptoms because it’s such a rare condition that a lot of doctors do not know anything about it. Remember, it took 29 years for me to be diagnosed
- Fragile skin that blisters easily. Commonly noticed on the hands and feet.
- Finger and toe nails that are unusually thick, or may not even form at all.
- Blisters that have formed inside the mouth and/or throat.
- Thick skin on the palms of the hands, or the soles of the feet.
- Scalp blistering, scarring and/or hair loss.
- Thin-appearing skin.
- Tiny white skin bumps
- Dental problems are also common.
- Difficulty swallowing that can lead to malnutrition.
- Itchy and painful skin.
There are may complications of EB, with the most severe forms possibly leading to death.
The most common complications of EB are:
- Infection – Since the skin blisters and tears, it becomes very vulnerable to bacterial infections. It’s really important to take care of any open wounds and keep them clean.
- Sepsis – If an infection goes to far, sepsis can occur. The bacteria from the infection can enter the bloodstream and spread throughout the body.
- Fusion of the fingers and even toes – Some of the severe forms can cause the skin to fuse together due to all the tears and blisters of the skin. To try to prevent this, fingers and toes must be individually wrapped which can be extremely difficult at times.
- Nutrition problems – In some forms, blisters in the mouth can make eating difficult and lead to malnutrition and anemia.
- Constipation – If there are blisters in the butt area, it may be difficult to go to the bathroom causing constipation.
- Dental Problems – Tooth decay and problems with the tissues inside the mouth are common with some types of EB.
- Skin Cancer – Dystrophic EB can also cause a skin cancer called Squamous Cell Carcinoma and is a major cause of death for DEB patients.
- Death – Infections, Skin Cancer and the inability to eat can all lead to death. Many children with Junctional EB die in childhood due to these complications.
EB is a genetic condition. It is typically passed on from parent to child. I was a spontaneous mutation has no one in the family had it prior to me. It was for that reason, that no one knew what was wrong. I had heard stories of other people having blisters like me, but every time I tried to research, nothing would come up. As I got older and google became popular, I tried googling my symptoms and again, nothing would come up. It was frustrating and at some point I gave up.
When I finally found the doctor, who said “I know what’s wrong with you” it was a true blessing. I couldn’t believe I finally had an answer. It was such a relief. It didn’t matter that she informed me there was no cure. It didn’t matter that she told me there was no treatment. I finally knew what was wrong and it explained everything!
I quickly googled Epidermolysis Bullosa and came across so much information. I searched in Facebook and met many people with it. I joined groups and made friends with others who have it. It opened up a whole new world for me that I couldn’t even imagine was there.
We need to get the word out there that EB exists. No one should have to wonder like I did for most of my life. It’s important that no one else suffer like I did. Now, I know how to manage it. I know that I shouldn’t walk for long periods. I know that I need to use a wheelchair and my disabled placard. Just knowing has been the greatest blessing.
Epidermolysis Bullosa, the unexplained blistering of the skin. We are the butterfly children. Our skin is as fragile as a butterfly’s wing.
Lastly, please watch this video by Debra of America.
