Department of Dermatology and Venereology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Region Västra Götaland, Sahlgrenska University Hospital, Department of Clinical Genetics and Genomics, Gothenburg, Sweden.
Acta Derm Venereol. 2023 Aug 24;103:adv12404. doi: 10.2340/actadv.v103.12404.
This retrospective registry-based cohort study aimed to estimate the incidence and prevalence of genodermatoses in the Swedish population and to analyse associated healthcare usage. Patients diagnosed with genodermatoses were identified from the patient registry of Sahlgrenska University Hospital (Gothenburg, Sweden) between 2016 and 2020. Clinical data from medical records were used to verify diagnoses recorded in the National Patient Registry (NPR). The NPR was then searched for International Classification of Diseases, Tenth Revision (ICD-10) codes Q80-82 and Q84 from 2001 to 2020. The local cohort included 298 patients with 36 unique genodermatosis diagnoses. Verification of these diagnoses in the NPR showed positive predictive values of over 90%. The NPR search yielded 13,318 patients with 73 unique diagnoses, including ichthyoses (n = 3,341; 25%), porokeratosis (n = 2,277; 17%), palmoplantar keratodermas (n = 1,754; 13%), the epidermolysis bullosa group (n = 1011; 7%); Darier disease (n = 770; 6%), Hailey-Hailey disease (n = 477; 4%) and Gorlin syndrome (n = 402; 3%). The incidence and prevalence of each diagnosis were calculated based on the nationwide cohort and are reported. A total of 149,538 outpatient visits were registered, a mean of 4.6 visits per patient. This study provides a valuable resource for the epidemiology of genodermatoses by reporting on the incidence and prevalence of 73 different genodermatoses.
这项回顾性基于登记的队列研究旨在估计瑞典人群中遗传性皮肤病的发病率和患病率，并分析相关的医疗保健使用情况。在 2016 年至 2020 年间，我们从萨赫勒格伦斯卡大学医院（瑞典哥德堡）的患者登记处确定了患有遗传性皮肤病的患者。从医疗记录中获取临床数据，以验证国家患者登记处（NPR）中记录的诊断。然后，从 2001 年到 2020 年，在 NPR 中搜索国际疾病分类，第十版（ICD-10）代码 Q80-82 和 Q84。本地队列包括 298 名患者，有 36 种独特的遗传性皮肤病诊断。在 NPR 中验证这些诊断的阳性预测值超过 90%。NPR 搜索产生了 13318 名患者，有 73 种独特的诊断，包括鱼鳞癣（n=3341；25%）、角层松解性角化过度症（n=2277；17%）、掌跖角化过度症（n=1754；13%）、大疱性表皮松解症组（n=1011；7%）、 Darier 病（n=770；6%）、Hailey-Hailey 病（n=477；4%）和 Gorlin 综合征（n=402；3%）。根据全国性队列计算了每种诊断的发病率和患病率，并报告了这些数据。共登记了 149538 次门诊就诊，每位患者平均就诊 4.6 次。这项研究通过报告 73 种不同遗传性皮肤病的发病率和患病率，为遗传性皮肤病的流行病学提供了有价值的资源。
