Epidermolysis Bullosa - EB is set of genetically
inherited skin blistering disorders. In recent years significant advances have been made
in the understanding of these disorders., allowing more accurate diagnosis and hence more
meaningful assessment of prognosis and genetic counselling. The various subtypes differ in
severity and as an affected individual can suffer considerable physical and social
difficulties, accurate diagnosis is an essential prerequisite for proper treatment.
The purpose of this project is to identify all cases of EB in Northern Ireland
and to accurately diagnose the various subtypes. This should aid information dissemination
and genetic counselling of affected people and their families.
It would also greatly assist research studies into the disorder, particularly
regarding identification of the various genes thought to be responsible. Ultimately this
will provide part of the necessary background scientific knowledge required for the
formulation and development of new therapies.
