A.H.M. Heagerty

TL;DR: A revised classification system that takes into account the new advances, as well as encompassing other inherited diseases that should also be included within the EB spectrum, based on the presence of blistering and mechanical fragility is presented.

TL;DR: In this article, the authors presented a new approach to classification of epidermolysis bullosa (EB) that takes into account sequentially the major EB type present (based on identification of the level of skin cleavage), phenotypic characteristics (distribution and severity of disease activity; specific extracutaneous features; other), mode of inheritance, targeted protein and its relative expression in skin, gene involved and type(s) of mutation present, and specific mutation(s), and their location(s).

TL;DR: A "complementary' mutation at the other end of the other keratin expressed by these cells (K5, coexpressed with K14), a change from a Glu to a Gly in the helix termination peptide is described, detected by altered antibody binding and confirmed by sequencing using the polymerase chain reaction.

TL;DR: GSTM1 A/B may be protective, and effectiveness of detoxication may be a factor determining susceptibility to skin cancer.

TL;DR: The fact that patients presenting with a truncal tumour are at increased risk of further BCC suggests that intermittent exposure in genetically predisposed individuals may contribute to a cancer susceptibility syndrome.