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.
摘要：
先天性假甲（PC）是一种主要的遗传性角化遗传疾病。PC在其他遗传性皮肤病中脱颖而出，因为尽管它很少，在过去的20年里，它一直是大量开创性转化研究工作的焦点，主要由患者支持组织推动，PhoyhyonchiaCongenita项目。这些努力为创新策略奠定了基础，这些策略可能会广泛影响其他遗传性皮肤和非皮肤疾病的管理方法。本文概述了当前PC领域的研究途径，预期结果，和潜在的障碍。
