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

@article{Shah2014PachyonychiaCI,
  title={Pachyonychia congenita in pediatric patients: natural history, features, and impact.},
  author={Sonal Navin Shah and Monica Boen and Brandi M Kenner-Bell and Mary R. Schwartz and Alfred Rademaker and Amy S Paller},
  journal={JAMA dermatology},
  year={2014},
  volume={150 2},
  pages={
          146-53
        }
}
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… CONTINUE READING
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