Article
Clouston syndrome can mimic pachyonychia congenita.
The Journal of investigative dermatology - 1 Nov 2003
van Steensel Maurice A M, Jonkman Marcel F, van Geel Michel, Steijlen Peter M, McLean W H Irwin, Smith Frances J D
Abstract excerpt
We studied three families suffering from nail abnormalities who had previously been diagnosed as pachyonychia congenita. No keratin gene mutations were detected. Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense mutations G11R and A88V that are known to be associated with Clouston syndrome. This unexpected finding expands the Clouston syndrome phenotype and suggests that...
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