Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches.
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Published version
Embargoed until: 5555-01-01
Reason: Version not permitted.
Embargoed until: 5555-01-01
Reason: Version not permitted.
Accepted version
Embargoed until: 2024-12-14
Embargoed until: 2024-12-14
DOI
10.1016/j.jid.2023.10.030
Journal
J Invest Dermatol
Metadata
Show full item recordAbstract
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.