Pachyonychia congenita type I presenting with subtle nail changes.
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.
Iorizzo
Matilde
M
Private Practice Dermatologist, Lugano, Switzerland. matildeiorizzo@gmail.com
Vincenzi
Colombina
C
Smith
Frances J D
FJ
Wilson
Neil J
NJ
Tosti
Antonella
A
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
C507569:KRT6A protein, human; D053553:Keratin-6; D001120:Arginine; D011392:Proline