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Updated: Aug 14, 2026

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
Published on: September 1, 2015
Abstract:
We report the second and third cases of pachyonychia congenita inherited as an autosomal recessive disorder. Our cases were unusual, with the fingernails showing a striking leukonychia and appearing clinically as Terry's nails. These patients were originally diagnosed as having epidermolysis bullosa simplex because of a history of a life-long blistering disorder. The clinical features and inheritance of pachyonychia congenita, as well as the reasons for the long delay in diagnosis of our cases, are discussed.
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