An update of the results: International EB-research

Prof.Marcel Jonkman, department of dermatology, UMCG

In circles of scientists there is more and more attention for EB-research. Nowadays it is possible to get a reasonably quick diagnosis after birth, this in contrast to the situation 20 years ago. And also there is more known about the varieties concerning EB.

EB – Simplex:

New in EB-simplex is EB Suprabasal, caused by a shortage of plakoglobin. This variation is lethal, as is the case with the variation caused by desmoplakin; first discovered in the medical centre in Groningen; children died a few days after birth. Another newly found variation in EB-simplex is the lack of the molecule BGPA1 in the skin of hands and feet.


Junctional EB:

As for this variation: in the case of EB-junctional also new research took place; for instance a late onset of junctional EB appearing on hands, feet and teeth. It is produced by recessive mutations in COL17A1.

Dystrophic EB:

Future healing therapies in EB will make use of medicines-, protein-, gene- or cell therapy. There is yet no real cure for EB, but with each new therapy our knowledge is growing; and we are on our way to a real cure in the future

*A therapy with medicines:

At the university of Dublin there is an experiment going on with the method siRNA .This method is being used to suppress " wrong coded" gene expression; and removes " bad " molecules in the case of skin-diseases. This approach can be an option for the treatment of EB-Simplex.


At the university of California an experiment with mice takes place. The mice are injected with human protein (Type VII Collagen)
This treatment was also spoken of by Marc de Souza, (See session on Thursday) and there is a possibility that with Lotus Tissue repair Inc. the research and use of this protein therapy will be sponsored.


The European Community donates 5 million Euro to help the research of gene-therapy in the case of RDEB. These experiments will take place" at vivo."


There is a possibility that a ( mutant ) type VII Collagen can be generated in the skin of EB-patients, in this way reducing blistering  en stimulating wounds to heal in a quicker way. The protein VII Collagen is produced by skin cells. In their turn these cells are being stimulated by fibroblasts; and these cells are easily to cultivate in labs. Those fibroblasts can be injected in the cutis of RDEB-patients. These injections with these not very immunological cells cause a kind of response of the outer skin-cells, putting them up to the production of more VII Collagen. At the time being; the experiment is not finished yet; the fibroblasts disappear after two weeks.
But, the mutant type of VII Collagen is kept in the skin for several months; thus helping to heal their wounds.

*Stem cell-therapy:

A pluripotent stem cell is a cell with a lot of regenerating qualities; being able to change into another cell type.
In Egypt, Chili and Minnesota (USA) experiments are developed with stem cells and EB; with reasonably satisfying results.
Bone marrow transplantation can be applied with EB-patients, but there is risk of infection. And also there are questions that have to be answered:

  • Which cells have to be transported out of the marrow?
  • What is the reason of the death of the children who underwent this treatment?

But there are small luminous points; in the past it was complicated to obtain suitable stem cells, but nowadays we can produce stem cells for all possible human organs; including the human skin. These cells are named: Induced pluripotent stem cells. (iPSCs)

*Revertant mosaiscism:

A natural type of gentherapy (see; lecture of M.Pasmooij "morning session)
Revertant skin cells can function as body related source for this iPSC technology.


There are sure some luminous points to look forward for and hope for, but, besides the financial help of Lotus repair Inc, we will surely need at least 100 million dollars to develop all these therapies. They have to be of practical use and give accessible for all patients with EB.

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