Wu Albert G, Lipner Shari R
New York Medical College, New York, New York, USA.
Department of Dermatology, Weill Cornell Medicine, New York, New York, USA.
Skin Appendage Disord. 2021 Apr;7(3):194-202. doi: 10.1159/000513340. Epub 2021 Feb 5.
Pachyonychia congenita (PC) is a rare dermatosis that confers lifelong physical and emotional morbidities in affected patients. However, the clinical findings, treatments, and psychosocial impact of this disease have not been adequately described. The International PC Research Registry (IPCRR), a multinational initiative to collect data on PC patients, has allowed an opportunity to distinguish the salient features of this disease. We aimed to characterize the breadth and extent of nail disease, treatments, and quality of life in PC patients, and to describe any significant differences in clinical presentation or treatment of PC subtypes.
The most recent IPCRR patient survey data consisting of an 857-response questionnaire and a 102-response addendum were analyzed in a retrospective analysis. The survey data were collected as part of a multinational, multicenter initiative and comprise the largest representative population of PC to date. Participants (survey respondents) were included in the study based on questionnaire responses and a genetic confirmation of having a PC subtype.
A total of 857 survey responses were collected. Genetic variations among PC subtypes influence nail disease onset and severity of symptoms. Nail disease negatively impacts patients' emotional health, especially during the adolescent and young adult years. Nail treatment tools vary little in terms of effectiveness and acquired infection rates.
Patients with different PC subtypes have distinct clinical nail presentations and psychosocial impact. Genetic testing should be used to confirm PC diagnoses. Further characterization of PC, especially the rarer subtypes, may allow for more individualized patient education.
先天性厚甲症（PC）是一种罕见的皮肤病，给受影响的患者带来终身的身体和情感疾病。然而，这种疾病的临床发现、治疗方法以及社会心理影响尚未得到充分描述。国际先天性厚甲症研究注册库（IPCRR）是一项收集先天性厚甲症患者数据的跨国倡议，它为区分这种疾病的显著特征提供了契机。我们旨在描述先天性厚甲症患者指甲疾病的范围和程度、治疗方法以及生活质量，并描述先天性厚甲症各亚型在临床表现或治疗方面的任何显著差异。
对国际先天性厚甲症研究注册库最新的患者调查数据进行回顾性分析，这些数据包括一份有857份回复的问卷和一份有102份回复的附录。该调查数据是作为一项跨国、多中心倡议的一部分收集的，是迄今为止最大的先天性厚甲症代表性人群。根据问卷回复以及对患有先天性厚甲症某一亚型的基因确认，将参与者（调查对象）纳入研究。
共收集到857份调查回复。先天性厚甲症各亚型之间的基因变异会影响指甲疾病的发病和症状严重程度。指甲疾病对患者的情绪健康有负面影响，尤其是在青少年和青年时期。指甲治疗工具在有效性和感染率方面差异不大。
不同先天性厚甲症亚型的患者有不同的临床指甲表现和社会心理影响。应使用基因检测来确诊先天性厚甲症。对先天性厚甲症，尤其是较罕见亚型的进一步特征描述，可能有助于开展更具个性化的患者教育。
