De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones

Abstract

Cowden syndrome (CS), also known as multiple hamartoma-neoplasia syndrome, is an autosomal dominant disease with numerous possible clinical manifestations.1 Commonly present are skin changes including acral keratoses and facial trichilemmomas,...