title: Pachyonychia congenita type I presenting with subtle nail changes.
abstract: Pachyonychia congenita type I is an autosomal dominant disorder where nail abnormalities are a constant feature and develop during childhood. We report here a family with pachyonychia congenita type I and very mild nail changes to underline that this diagnosis should be considered even in the absence of severe nail thickening.
authors.affiliation: Private Practice Dermatologist, Lugano, Switzerland. matildeiorizzo@gmail.com
authors.forename: Matilde
authors.initials: M
authors.lastname: Iorizzo
authors.forename: Colombina
authors.initials: C
authors.lastname: Vincenzi
authors.forename: Frances J D
authors.initials: FJ
authors.lastname: Smith
authors.forename: Neil J
authors.initials: NJ
authors.lastname: Wilson
authors.forename: Antonella
authors.initials: A
authors.lastname: Tosti
mesh_terms: D000328:Adult; D000368:Aged; D001120:Arginine; D018450:Disease Progression; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D007223:Infant; D053553:Keratin-6 / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D009262:Nails / Q000473:pathology*; D054039:Onycholysis / Q000235:genetics / Q000473:pathology; D053549:Pachyonychia Congenita / Q000235:genetics* / Q000473:pathology*; D011392:Proline
chemical_list: C507569:KRT6A protein, human; D053553:Keratin-6; D001120:Arginine; D011392:Proline