Plázár Dóra, Meznerics Fanni Adél, Pálla Sára, Anker Pálma, Farkas Klára, Bánvölgyi András, Kiss Norbert, Medvecz Márta
Department of Dermatology, Venereology and Dermatooncology, Faculty of Medicine, Semmelweis University, 1085 Budapest, Hungary.
Biomedicines. 2023 Oct 6;11(10):2717. doi: 10.3390/biomedicines11102717.
(1) Background: Genodermatoses are a clinically and genetically heterogenous group of inherited skin disorders. Diagnosing inherited skin diseases is a challenging task due to their rarity and diversity. Dermoscopy is a non-invasive, easily accessible, and rapid tool used in dermatology not only for diagnostic processes but also for monitoring therapeutic responses. Standardized terminologies have been published for its proper use, reproducibility, and comparability of dermoscopic terms. (2) Methods: Here, we aimed to investigate dermoscopic features in various genodermatoses by conducting a systematic review and comparing its results to our own findings, data of patients diagnosed with genodermatoses at the Department of Dermatology, Venereology and Dermatooncology, Semmelweis University. (3) Results: Our systematic search provided a total of 471 articles, of which 83 reported both descriptive and metaphoric dermoscopic terminologies of 14 genodermatoses. The literature data were then compared to the data of 119 patients with 14 genodermatoses diagnosed in our department. (4) Conclusion: Dermoscopy is a valuable tool in the diagnosis of genodermatoses, especially when symptoms are mild. To enable the use of dermoscopy as an auxiliary diagnostic method, existing standardized terminologies should be extended to more genodermatoses.
(1) 背景：遗传性皮肤病是一组临床和遗传异质性的遗传性皮肤疾病。由于其罕见性和多样性，诊断遗传性皮肤病是一项具有挑战性的任务。皮肤镜检查是皮肤科一种非侵入性、易于获取且快速的工具，不仅用于诊断过程，还用于监测治疗反应。已经发布了标准化术语，以确保皮肤镜术语的正确使用、可重复性和可比性。(2) 方法：在此，我们旨在通过进行系统综述，并将结果与我们自己的发现进行比较，即塞梅尔维斯大学皮肤病、性病与皮肤肿瘤学系诊断为遗传性皮肤病的患者数据，来研究各种遗传性皮肤病的皮肤镜特征。(3) 结果：我们的系统检索共获得471篇文章，其中83篇报告了14种遗传性皮肤病的描述性和隐喻性皮肤镜术语。然后将文献数据与我们科室诊断的119例患有14种遗传性皮肤病的患者数据进行比较。(4) 结论：皮肤镜检查是诊断遗传性皮肤病的一种有价值的工具，尤其是在症状较轻时。为了使皮肤镜检查能够作为辅助诊断方法使用，应将现有的标准化术语扩展到更多的遗传性皮肤病。
