Dominant dystrophic epidermolysis bullosa of Cockayne-Touraine in father and son: clinical and ultrastructural similarities

Abstract

Dominant dystrophic epidermolysis bullosa of Cockayne-Touraine occurred in a father and his son. Clinically, the child presented evident blistering, while the father, despite of his work, where minimal skin traumata frequently occur, was rarely affected. Absent or rudimentary anchoring fibrils were seen in the normal-appearing skin of the father; this suggests that other factors may play a role in the dermolytic separation.