Many patients with dystrophic, and sometimes junctional, EB develop skin cancer, also called squamous cell carcinoma (SCC). EB associated SCC behave differently from other SCC, which are commonly induced by chronic sun exposure. In individuals with EB, SCC develop at an early age and behave in an aggressive manner. The reasons for this tumour behaviour in EB are not known. Therefore, it is not possible to develop efficient treatment regimes. For these reasons, research on skin cancer is urgently needed.

A major problem for research on EB-related SCC is lack of tumour material. Rarity of EB and the tumours, and patients living in widespread regions of Europe, have impeded the collection of tumour samples and their systematic scientific analysis.

With support from DebRA, a pilot project was started in 2004 in Germany for collection and documentation of EB-SCC in a registry and material bank. A number of tumours have already been analysed, and tumour cells and cell lines stored in a material bank. Our goal now is to consolidate these structures by continuing and expanding that work. These will serve as prerequisites for research on EB-related skin cancer. At a later stage, an extension to include other centres in Europe is planned.

FINANCIAL SUMMARY