Inherited epidermolysis bullosa; an immunohistochemical study

ABSTRACT

In this study, 25 cases of epidermolysis bullosa and 10 age matched controls were screened for the abnormalities in keratin 5, 14 and collagen VII using immunoperoxidase staining with monoclonal antibodies. In epidermolysis bullosa simplex [EBS] cases, cytokeratin 14 staining was significantly less than normal controls in the basal cells, while the suprabasal cells [the roof of the blister] did not differ significantly from the suprabasal cells of the controls. On the other hand, cytokeratin 5 revealed a marked positive staining of the upper and lower surfaces of the blister, but the difference was statistically significant only when the upper surface of the blister was compared with the suprabasal cells of the controls. Inherited epidermolysis bullosa represents a group of diseases for which the cardinal feature is blistering in response to mechanical trauma. In most cases, the inheritance pattern can be deduced and the transmission of the mutation through the family follows the principles of Mendelian inheritance