进行性对称性红斑角化症伴发症状病例报道并文献分析

Progressive symmetric erythematous keratosis with symptoms:a case report and literature analysis

目的对进行性对称性红斑角化症(PSEK)伴发症状进行病例分析并文献复习。方法收集2016—2017年就诊于内蒙古自治区人民医院皮肤科2个蒙古族PSEK家系,并利用数据库检索1980—2020年国内外已发表的较为完整的40个PSEK家系和156例散发病例,分析PSEK伴发症状。结果共纳入较为完整的PSEK家系40个,共714例。PSEK伴发症状较多见,国外发生率为57.38%,国内发生率为37.42%;国外最常见的伴发症状为掌跖角化症(PPK),其次为甲改变、神经症状、发育异常、合并可变性红斑角化症(EKV)等,且伴发症状较重;国内最常见的伴发症状为甲改变,其次为PPK、潮湿多汗、瘙痒、疼痛及一些皮肤病等,且伴发症状较轻。结论PSEK伴发症状较多,分子遗传机制尚不明确,通过测序技术的发展和临床样本量的扩大可对该疾病有更全面、更深入的研究和认识。

Objective To analyze the associated symptoms of progressive symmetrical erythema keratosis(PSEK)and the related literature was reviewed.Methods Two Mongolian PSEK families in the dermatology department of the People′s Hospital of Inner Mongolia Autonomous Region from 2016 to 2017 were collected,and 40 complete PSEK families and 156 sporadic cases at home and abroad published since 1980 to 2020 were searched by using the database to analyze the concomitant symptoms of PSEK.Results A total of 40 complete PSEK families were included,including 714 cases.The incidence of PSEK was 57.38%in foreign countries and 37.42%in China;The most common concomitant symptoms abroad were palmoplantar keratosis(PPK),followed by nail changes,neurological symptoms,dysplasia,combined with variable erythema keratosis(EKV),and the concomitant symptoms were more serious;The most common concomitant symptoms in China were nail changes,followed by PPK,damp hyperhidrosis,pruritus,pain and some skin diseases,and the concurrent symptoms were mild.Conclusions PSEK has many associated symptoms and the molecular genetic mechanism is still unclear.It is necessary to conduct a more comprehensive and in-depth study and understanding of the disease through the development of sequencing technology and the expansion of clinical cases.