Article
Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.
The British journal of dermatology - 1 May 2017
Lovgren M-L, McAleer M A, Irvine A D, Wilson N J, Tavadia S, Schwartz M E, Cole C, Sandilands A, Smith F J D, Zamiri M
Abstract excerpt
The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterized by thickening of the epidermis of the palms and soles. No classification system satisfactorily unites clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis - striate, focal, diffuse and punctate. Mutations in the desmoglein 1 gene (DSG1), a transmembrane...
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