Department of Dermatology and Wound Healing, School of Medicine, Cardiff University, Cardiff, UK.
J Invest Dermatol. 2010 Feb;130(2):336-8. doi: 10.1038/jid.2009.395.
Twenty years have elapsed since keratin mutations were linked to cutaneous genodermatoses, and we now know that they cause 40 different genetic disorders. In this issue, Wilson et al. have identified KRT6C mutations in patients with focal palmoplantar keratoderma (FPPK), but debate concerning overlapping phenotypes between FPPK and pachyonychia congenita (PC) will continue because only one family has nail involvement. Furthermore, screening of control DNA samples identified 3 in 335 individuals (1%) who had a mutation (K6c p.Asn172del), but the phenotype was not ascertained. However, this raises the question as to whether individuals with sensitive feet bear specific KRT6C mutations and whether a general population screen should be considered.
二十年来，角蛋白突变与皮肤遗传性疾病相关联，我们现在知道它们导致了 40 种不同的遗传疾病。在本期中，Wilson 等人在患有局灶性掌跖角化病（FPPK）的患者中发现了 KRT6C 突变，但由于只有一个家族存在指甲受累，因此关于 FPPK 和先天性厚甲症（PC）之间重叠表型的争论仍将继续。此外，对对照 DNA 样本的筛查在 335 个人中发现了 3 个人（1%）存在突变（K6c p.Asn172del），但未确定其表型。然而，这就提出了一个问题，即是否有足部敏感的个体携带有特定的 KRT6C 突变，以及是否应该考虑对普通人群进行筛查。
