title: Clouston syndrome can mimic pachyonychia congenita.
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.
authors.affiliation: Department of Dermatology, University Medical Center Nijmegen, Nijmegen, The Netherlands.
authors.forename: Maurice A M
authors.initials: MA
authors.lastname: van Steensel
authors.forename: Marcel F
authors.initials: MF
authors.lastname: Jonkman
authors.forename: Michel
authors.initials: M
authors.lastname: van Geel
authors.forename: Peter M
authors.initials: PM
authors.lastname: Steijlen
authors.forename: W H Irwin
authors.initials: WH
authors.lastname: McLean
authors.forename: Frances J D
authors.initials: FJ
authors.lastname: Smith
mesh_terms: D000293:Adolescent; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010641:Phenotype
chemical_list: D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human