EB is a group of diseases characterized by blister formation after minor trauma to the skin. This family of disorders, most of which are inherited, range in severity from mild to the severely disabling and life-threatening diseases of the skin. This rare genetic disorder affects all ethnic and racial groups. Estimates indicate that as many as 100,000 Americans suffer from some form of EB.
What do EB blisters look like?
This blister was one of his first. In the beginning his hands seemed to be the only area that blisters would reoccur. My explanation was a large clear fluid filled blister. Little did I know that not all the blisters will have the same appearance.
There are many different types of EB Simplex. Our son has Koebner.
Koebner Subtype of EB Simplex:
This is a form of generalized EB simplex. This disorder usually presents at birth or infancy. Blisters are noted to be widespread over the body's surface. Though it is not a common feature of this type of EB to scar on rare occasions it does happen. There may be mild involvement of mucous membranes. Fingernails and toenails are sometimes involved. Localized thickening of the skin (keratoderma) on the soles of the feet and the palms of the hands may occur especially as one gets older.
Mutations are in the genes encoding K5 or K14.
Other subtypes can be found @ http://www.debra.org/.
How do you test for EB?
First you will need to contact your Pediatric Dermatologist. He/She will then advise you of the proper tests.
IF Mapping - When performing the biopsy for this test your doctor will take a pencil eraser and rub the skin to induce a blister. This piece of skin is then removed and sent to a lab.
Electron Microscopy – The same skin can be sent to be read with this method. It is possible that you may be asked to provide a new skin sample for this test. An electron microscope is a type of microscope that produces an electronically-magnified image of a specimen for detailed observation. This will enable the doctor to see what layer of skin the blisters are forming in between.
We have had our son tested for gene defects and the results have all come back normal... But we know somewhere he has a gene mutation. He would not have blisters if the genes were normal. All the materials that I am able to find say that this condition is genetic. Although our doctor has not been able to find this in our family. We were told that it is very rare but it seems our son is a "new case". This happens during the early developement stages of pregnancy.
He has had a total of 5 skin biopsies. The first 4 came back inconclusive. The last biopsy was taken from a blister in its early stage and was sent to a lab for Electron Microscopy. They were able to see that the blister was between the 1st and 2nd layer of skin (epidermis); we then got a diagnosis of EB Simplex / Koebner.
With subtype Koebner he gets blisters in all friction or injured areas.
Biopsy #1 healed.
This picture is of biopsies 2 & 3 with stiches still intact.
Hopefully these pictures can help you to understand what will happen if your child needs this done. We had no idea what they were going to do to our child. We were told that a small circular piece of skin would be removed with a tool that resembled a cookie cutter. We were not allowed in the room. Our son was only 5 weeks old and we were terrified to hand him to a nurse and leave the room. He did very well. They numb the area before taking the biopsy and he was back to smiling at us within a few minutes. Babies are so forgiving.
