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。%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.
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