Abstract：
Pachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and additional features, which has allowed classification by genotype. Additional features include pilosebaceous cysts, follicular hyperkeratosis, natal teeth, oral leukokeratosis, hidradenitis suppurativa, itching, and neurovascular structures. Although classed as rare, the prevalence of PC is likely to be underestimated. There is no cure or specific treatment for PC at present. Current treatments are limited to conservative measures to reduce plantar friction and trauma, mechanical debridement, topical treatments, and treatments for associated features or complications, most commonly infection. However, through active research in collaboration with PC Project, a patient-advocacy group, and the International PC Research Registry, a global registry of PC patients, there are now many new potential therapeutic options on the horizon. This review summarizes the clinical features associated with PC and highlights the current and future treatment of its manifestations.
摘要：
先天性假甲(PC)是一种罕见的，常染色体显性遗传性角质化疾病，其特征是局灶性掌plant角化症三联征，足底疼痛,和肥厚性指甲营养不良.它可能使人衰弱，导致严重的流动性受损。在临床上诊断PC，同时鉴定出五个角蛋白基因之一的杂合致病突变：KRT6A，KRT6B,KRT6C,KRT16或KRT17。每个角蛋白基因突变都与不同的临床表型相关，具有可变的发病年龄和其他特征，这允许按基因型分类。其他功能包括毛囊皮脂腺囊肿，毛囊角化过度,出生的牙齿，口腔白细胞角化病，化脓性汗腺炎,瘙痒,和神经血管结构。虽然被归类为稀有，PC的流行可能被低估了。目前尚无针对PC的治愈或特异性治疗方法。目前的治疗方法仅限于保守措施，以减少足底摩擦和创伤，机械清创,局部治疗,以及相关特征或并发症的治疗，最常见的感染。然而,通过与PC项目合作的积极研究，一个病人倡导团体，和国际个人电脑研究登记处，全球PC患者登记处，现在有许多新的潜在的治疗选择在地平线上。这篇综述总结了与PC相关的临床特征，并强调了其表现的当前和未来治疗。
