■先天性假甲癣(PC)是一种罕见的皮肤病,可在受影响的患者中造成终生的身体和情绪疾病。然而,临床发现,治疗,这种疾病的社会心理影响尚未得到充分描述。国际个人电脑研究登记处(IPCRR),一项收集PC患者数据的跨国倡议,有机会区分这种疾病的显著特征。我们的目标是描述指甲疾病的广度和程度,治疗,以及PC患者的生活质量,并描述PC亚型在临床表现或治疗方面的任何显着差异。
■在回顾性分析中分析了最新的IPCRR患者调查数据,包括857响应问卷和102响应附录。调查数据是作为跨国公司的一部分收集的,多中心倡议,构成了迄今为止最大的PC代表性人群。参与者(调查受访者)根据问卷回答和具有PC亚型的遗传确认纳入研究。
■共收集了857份调查回复。PC亚型之间的遗传变异会影响指甲疾病的发作和症状的严重程度。指甲疾病对患者的情绪健康产生负面影响,特别是在青少年和年轻的成年人年。指甲治疗工具在有效性和获得性感染率方面差异不大。
■具有不同PC亚型的患者具有不同的临床指甲表现和心理社会影响。应使用基因检测来确认PC诊断。PC的进一步表征,尤其是更罕见的亚型,可以允许更个性化的患者教育。
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.