CAJ | 학술논문

目的：了解中国人进行性对称性红斑角化症（PSEK）的临床表现和遗传特点。方法对该科收集的1个PSEK家系和1990年以来报道相关中国人PSEK的8个PSEK家系进行系统的临床和遗传学的总结分析。结果（1）PSEK的典型临床表现为初发于掌跖的对称性、边界清楚的角化性红斑、部分患者皮损可扩展至其他部位，但多较为局限，多幼年发病，患者身体健康不受影响；（2）呈常染色体显性遗传；（3）同一家系内或不同家系间患者的表现度可存在明显差异；（4）多不伴发其他疾病；（5）部分家系的发病情况呈不规则显性；（6）近亲结婚家系中可见PSEK患者。结论 PSEK为一种少见的、有高外显率的常染色体显性遗传性皮肤病，临床表现以对称分布的、固定的红色角化性斑块为特征，但不同患者表现度可存在明显差异，近亲结婚患病的几率可能增加。
목적：료해중국인진행성대칭성홍반각화증（PSEK）적림상표현화유전특점。방법대해과수집적1개PSEK가계화1990년이래보도상관중국인PSEK적8개PSEK가계진행계통적림상화유전학적총결분석。결과（1）PSEK적전형림상표현위초발우장척적대칭성、변계청초적각화성홍반、부분환자피손가확전지기타부위，단다교위국한，다유년발병，환자신체건강불수영향；（2）정상염색체현성유전；（3）동일가계내혹불동가계간환자적표현도가존재명현차이；（4）다불반발기타질병；（5）부분가계적발병정황정불규칙현성；（6）근친결혼가계중가견PSEK환자。결론 PSEK위일충소견적、유고외현솔적상염색체현성유전성피부병，림상표현이대칭분포적、고정적홍색각화성반괴위특정，단불동환자표현도가존재명현차이，근친결혼환병적궤솔가능증가。
Objective To study clinical and genetic features of progressive symmetric erythrokeratoderma (PSEK)in Chinese.Meth-ods The clinical and genetic features of PSEK were analyzed from one PSEK pedigree collected by clinic and studied by reviewing 8 PSEK families reported in China since 1990.Results (1)The clinic features included hyperkeratotic plaques with distinct border and strikingly symmetric distribution pattern on the extremities.As the age of the patients was advancing,the lesions extended to other areas of the body.The onset of the disease often started in infancy or childhood.The general health condition was not affected.(2)The pattern of inheritance was autosomal dominant.(3)There was a marked variability in disease expression not only between families but also with-in a family.(4)Some families showed a pattern of irregular dominance.(5 )Few patients presented with other coincident dermatoses. (6)Some patients with PSEK were found in the family of consanguineous marriage.Conclusions PSEK is a rare disease in Chinese based on the published literatures and is an autosomal dominant skin disease with high penetrance.The typical PSEK is characterized by symmetrical hyperkeratotic plaques on the extremities and there is difference in phenotype among the individuals.Consanguineous mar-riage probably increases the risk of PSEK.