Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy.


BACKGROUND Epidermolysis bullosa simplex associated with muscular dystrophy is caused by plectin deficiency. OBJECTIVE To report clinical, immunohistochemical, ultrastructural and molecular features of a 52-year-old Japanese patient affected with this disease, whose muscular disease had been followed-up for 27 years. METHODS We performed… (More)


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