中国汉族人6家系42例进行性对称性红斑角化症的临床和遗传特点分析

Clinical and genetic features of progressive symmetric erythrokeratoderma in 42 cases from 6 Chinese Han families

目的 : 了解中国汉族人进行性对称性红斑角化症 (PSEK)的临床表型和遗传学特点。方法 : 对我们收集的一个PSEK家系中患者的临床表型和遗传特点进行总结和分析 ,并将结果与 1980年以来文献报道的 5个中国汉族人PSEK家系进行系统对比分析。结果 : (1)PSEK在家系中的传递符合常染色体显性遗传模式 ;(2 )中国汉族人群中PSEK的临床表型特征为初发于掌跖的固定、边界清楚的角化性红色斑块 ,对称分布 ,部分患者皮损可扩展至四肢近端及躯干等处 ,但多局限 ,不影响患者健康 ,多幼年发病 ;(3)同一家系中不同患者的表现度可存在明显差异 ;(4 )患者多不伴发其他疾病 ;(5 )部分家系的发病情况呈现不规则显性。结论 : PSEK是一种具有高外显率的常染色体显性遗传性皮肤病 ,中国汉族人群中报道不多 ;临床表型以对称分布的散在、固定的角化性红色斑块为特征 。

Objective: To characterize the clinical and genetic features of progressive symmetric erythrokeratoderma (PSEK) in 42 case from 6 Chinese Han families. Methods: The clinical and genetic data from 42 cases in 6 families were analysed, and compared with 5 cases of PSEK reported in the Chinese literature since 1980. Results: The inheritance pattern of PSEK was autosomal dominant. 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. The phenotype in the same family differed. Few patients presented with other coincident dermatoses. Some families showed a pattern of irregular dominance. Conclusion:PSEK generally shows an autosomal dominant pattern of inheritance with high penetrance,and it is a rare disease in Chinese based on the published literatures. The typical PSEK is characterized by symmetrical hyperkeratotic plaques on the extremities and there is difference in phenotype among the individuals.