中国汉族人5家系40例点状掌跖角化病临床及遗传特点分析

Clinical and Genetic Features of Punctate Palmoplantar Keratoderma in 40 Cases from 5 Chinese Han Families

目的了解中国汉族人点状掌跖角化病(punctate,palmop lantar keratoderm a)的临床表型和遗传学特点。方法对收集的1例点状掌跖角化病家系进行系统的临床表型和遗传学特点的分析,并将结果与国内报道的其他4例点状掌跖角化病家系进行对比分析。结果①点状掌跖角化病在家系中的传递符合常染色体显性遗传模式;②中国汉族人群中点状掌跖角化病的临床表型特征为点状角化丘疹不规则的分布于掌跖部;③发病年龄跨度较大,可从十几岁至五十岁左右;④大多数家系存在遗传早现现象(antic ipation);⑤同一家系中或不同家系之间患者的表现度(expressivity)可存在明显差异。结论点状掌跖角化病是一种具有高外显率的常染色体显性遗传性皮肤病,临床表型为点状角化丘疹不规则的分布于掌跖部,但不同患者表现度可存在明显差异。

Objective To characterize the clinical and genetic features of punctate palmoplantar keratoderma （PPK） in 40 cases from 5 Chinese Han families. Methods The clinical and genetic data from 1 case in a family were analyzed, and compared with 4 pedigrees of punctate PPK reported in the Chinese literature. Results ①he inheritance pattern of punctate PPK was autosomal dominant. ②It was characterized by multiple tiny punctate keratoses over the entire palmoplantar surfaces ,coalescence of the punctate keratoses into a more diffuse pattern over the pressure points of the soles. ③The lesions usually started to develop in late childhood to adolescence, but might also started to appear up to the fifth decade in life. ④Most of families existed anticipation.⑤ There was a marked variability in disease expression not only between families but also within a family. Condusion Punctate PPK generally shows an autosomal dominant pattern of inheritance with high penetrance, and it is a rare disease in Chinese. The typical punctate PPK is characterized by numerous hyperkeratotic papules that are irregularly distributed on the palms and soles and there is difference in phenotype among the individuals.