Double trouble: homozygous dominant mutations and hair loss in pachyonychia congenita.
In this issue, Wilson et al. report the first case of homozygous dominant negative mutations in KRT17 in pachyonychia congenita (PC). Homozygous dominant negative mutations are a rare occurrence in keratin disorders and this is a first report in PC. These mutations cause a distinct sub-phenotype of PC that is more severe in the offspring of affected parents and has associated alopecia.
National Children's Research Centre and Paediatric Dermatology, Our Lady's Children's Hospital Crumlin, Dublin, Ireland. irvinea@tcd.ie
Alan D
AD
Irvine
D000505:Alopecia / Q000235:genetics*; D005260:Female; D006801:Humans; D053537:Keratin-17 / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D053549:Pachyonychia Congenita / Q000235:genetics*
D053537:Keratin-17