Pachyonychia congenita in pediatric patients: natural history, features, and impact

S Shah, M Boen, B Kenner-Bell, M Schwartz… - JAMA …, 2014 - jamanetwork.com
Importance Nail dystrophy in early childhood often suggests a diagnosis of pachyonychia
congenita (PC). No previous investigation has focused on the early signs of PC and the
natural course of the disease. Objectives To determine the course of pediatric PC, correlate
the disease course with the clinical appearance and specific gene mutations, and assess
the effect of pediatric PC on quality of life. Design, Setting, and Participants One hundred
one patients or families with genetically confirmed PC from the International Pachyonychia …