掌跖角化病是最常见的遗传性皮肤病之一，与角质形成细胞癌和黑色素瘤的风险增加有关。
Porokeratosis is one of the most common genodermatoses and is associated with an increased risk of keratinocyte cancer and melanoma.
机构信息
Department of Dermatology and Venereology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Department of Dermatology and Venereology, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.
出版信息
J Eur Acad Dermatol Venereol. 2023 Feb;37(2):420-427. doi: 10.1111/jdv.18587. Epub 2022 Oct 1.
BACKGROUND
Porokeratosis is a clinically heterogeneous group of keratinization disorders with a genetic background mainly affecting the mevalonate pathway, which is involved in the synthesis of cholesterol, an essential component for the formation of the extracellular lipid lamellae in the stratum corneum. Porokeratosis is reportedly associated with an increased risk of keratinocyte cancer, but to date, no large epidemiological studies have been conducted to further address this association.
OBJECTIVES
The first objective was to characterize a cohort of patients diagnosed with porokeratosis at the Department of Dermatology and Venereology, Sahlgrenska University Hospital (SU), Gothenburg, Sweden. The second objective was to conduct a nationwide registry-based cohort study to investigate the association, if any, between porokeratosis and the cutaneous malignancies squamous cell carcinoma (SCC), basal cell carcinoma (BCC) and melanoma.
METHODS
For the SU cohort, the hospital registry was searched for patients with a diagnosis of porokeratosis recorded between 2016 and 2020. Clinical data were extracted from the records of the identified patients. For the nationwide cohort, national registries were searched to identify patients with a diagnosis of porokeratosis between 2001 and 2020. A tenfold control cohort was formed by Statistics Sweden. The data was cross-referenced with the Swedish Cancer Register to study the associations between porokeratosis and SCC, BCC and melanoma.
RESULTS
Disseminated superficial actinic porokeratosis was the most common clinical type among the 108 patients in the SU cohort. In the nationwide search, 2277 patients with porokeratosis were identified (prevalence 1/4132). Porokeratosis was associated with an increased risk for SCC, BCC and melanoma with hazard ratios (95% CI) of 4.3 (3.4-5.4), 2.42 (1.97-2.98) and 1.83 (1.18-2.82), respectively, in the patient cohort, compared to the matched control group.
CONCLUSION
Porokeratosis is a common genodermatosis, and it is associated with an enhanced risk of skin cancer.
背景
角化病是一组具有临床异质性的角化障碍，其遗传背景主要影响甲羟戊酸途径，该途径参与胆固醇的合成，胆固醇是形成角质层细胞外脂质层的重要组成部分。据报道，角化病与角质形成细胞癌的风险增加有关，但迄今为止，尚无大型流行病学研究进一步探讨这种关联。
目的
第一个目标是描述在瑞典哥德堡萨尔格伦斯卡大学医院皮肤科和性病科（SU）诊断为角化病的患者队列。第二个目标是进行一项基于全国登记的队列研究，以调查角化病与皮肤恶性肿瘤鳞状细胞癌（SCC）、基底细胞癌（BCC）和黑色素瘤之间是否存在任何关联。
方法
对于 SU 队列，从医院登记处搜索 2016 年至 2020 年间记录的角化病诊断患者。从确定患者的记录中提取临床数据。对于全国性队列，从全国登记处搜索 2001 年至 2020 年间诊断为角化病的患者。由瑞典统计局组成十倍对照组。将数据与瑞典癌症登记处交叉参考，以研究角化病与 SCC、BCC 和黑色素瘤之间的关联。
结果
弥漫性浅表光化性角化病是 SU 队列中 108 例患者中最常见的临床类型。在全国范围内的搜索中，确定了 2277 例角化病患者（患病率为 1/4132）。与匹配的对照组相比，角化病患者发生 SCC、BCC 和黑色素瘤的风险分别增加了 4.3（3.4-5.4）、2.42（1.97-2.98）和 1.83（1.18-2.82）。
结论
角化病是一种常见的遗传性皮肤病，与皮肤癌风险增加有关。
Zotero 插件