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Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches. The Journal of investigative dermatology O'Toole, E. A., Kelsell, D. P., Caterina, M. J., de Brito, M., Hansen, D., Hickerson, R. P., Hovnanian, A., Kaspar, R., Lane, E. B., Paller, A. S., Schwartz, J., Shroot, B., Teng, J., Titeux, M., Coulombe, P. A., Sprecher, E. 2023

Abstract

Pachyonychia congenita (PC) is a dominantly inherited genetic disorder of cornification. PC stands out among other genodermatoses because despite its rarity, it has been the focus of a very large number of pioneering translational research efforts over the past 2 decades, mostly driven by a patient support organization, the Pachyonychia Congenita Project. These efforts have laid the ground for innovative strategies that may broadly impact approaches to the management of other inherited cutaneous and noncutaneous diseases. This article outlines current avenues of research in PC, expected outcomes, and potential hurdles.

View details for DOI 10.1016/j.jid.2023.10.030

View details for PubMedID 38099888