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Clouston syndrome can mimic pachyonychia congenita

Clouston syndrome can mimic pachyonychia congenita

Source :
Journal of Investigative Dermatology. 121(5):1035-1038
Publication Year :
2003
Publisher :
ELSEVIER SCIENCE INC, 2003.

Abstract

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 some patients diagnosed with pachyonychia may in fact be suffering from Clouston syndrome.

Details

Language :
English
ISSN :
0022202X
Volume :
121
Issue :
5
Database :
OpenAIRE
Journal :
Journal of Investigative Dermatology
Accession number :
edsair.dris...01423..b43bb8d95704d0d87b531c51abd7aeff