EB Simplex
What is EB Simplex?
​
Epidermolysis Bullosa is a rare genetic skin disorder that results in fragility of the skin. Blisters and/or erosions form as a result of friction, rubbing or trauma. EB Simplex effects the top most layer of skin, making the skin extremely sensitive. Because EB Simplex only effects this top layer of skin it is considered a non-scarring form of EB.
There currently is no cure for EB. Because of the rarity of the disorder; research and clinical
trials/studies are in the earliest stages.
Daily activities like riding in the car seat
are excruciatingly painful.
Click on the picture for more examples.
How did Adley get it?
​
EB Simplex is usually inherited. One parent of an affected person will usually also have the condition, though it is possible for EB simplex to appear 'sporadically' (to appear for the first time in a person who has no other affected family member).
Adley was born with a dominant genetic mutation that causes EB, despite neither parent having EB. When this occurs, it is because the gene spontaneously mutated in either the sperm or the egg before conception.
There is no scientific evidence that the parents could have prevented such spontaneous mutation, and there are no known environmental, dietary or behavioral triggers for this type of mutation.
Diagram on Left shows the layers of skin. Based on the layer(s) that blister, there are 3 different subtypes of EB.
Adley's EBS, affects the top most layers of skin, because of a lack of Keratins in her DNA.
This disease is genetic; Adley's children will have a 1 in 2 chance of inheriting EBS.
How Adley is effected by EB...
​
Adley was born with open wounds and scabs on her fingers. Her hands almost looked as if they were burned. The wounds were a result of her sucking on her hands while she was in the womb. As she was in the hospital she developed new blisters/wounds from hospital tape and hospital braclets and along her legs and hips where the diaper was rubbing.
Adley spent her first three days of life in the Edward hospital NICU, where neonatologists at the hospital, and a dermatologist that was called over were unable to diagnose Adley's skin condition.
After we were released from Edward hospital we took Adley to a branch of Children's Memorial Hospital to see a pediatric dermatologist, who also happens to be an EB specialist. Adley had a skin biopsy, and needed to get one stitch in her leg. After 5 days of waiting Adley was diagnosed with EB Simplex.
Areas where Adley's skin experience rubbing or friction result in blisters. On a daily basis the blisters need to be lanced with a sterile needle and drained. Once the blisters have been drained they generally form a scab and heal quickly, with cleaning and application of ointments. Some scabs (like on elbows or toes) take longer to heal because of movement, as a result the rough scab often times irratates the surrounding skin and causes more blisters.
As Adley grows and becomes more mobile her blistering is becoming more severe and widespread.
We are fortunate however, that Adley has Simplex, the mildest of the 3 subtypes of EB.