A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita

MJ Eliason, SA Leachman, B Feng… - Journal of the American …, 2012 - Elsevier
BACKGROUND: Pachyonychia congenita (PC) is a group of autosomal dominant
keratinizing disorders caused by a mutation in one of 4 keratin genes. Previous classification
schemes have relied on data from case series and case reports. Most patients in these
reports were not genetically tested for PC. OBJECTIVE: We sought to clarify the prevalence
of clinical features associated with PC. METHODS: We surveyed 254 individuals with
confirmed keratin mutations regarding their experience with clinical findings associated with …