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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adult
-
Aged
-
Arginine
-
Disease Progression
-
Genes, Dominant
-
Heterozygote
-
Humans
-
Infant
-
Keratin-6 / genetics
-
Male
-
Mutation, Missense
-
Nails / pathology*
-
Onycholysis / genetics
-
Onycholysis / pathology
-
Pachyonychia Congenita / genetics*
-
Pachyonychia Congenita / pathology*
-
Proline
Substances
-
KRT6A protein, human
-
Keratin-6
-
Arginine
-
Proline