遗传性对称性色素异常症:临床和遗传特点分析

Dyschromatosis symmetric hereditaria: analyses of clinical and genetic features

目的 了解中国人遗传性对称性色素异常症 (DSH)的临床表现和遗传特点。方法 对 1980年以来中国人报道的DSH家系进行系统的临床和遗传特点分析。结果 ①DSH遗传方式为常染色体显性遗传。②中国人DSH的典型表现为患者的肢端有色素沉着和色素减退的网状斑 ,对称分布 ,小部分患者面部有雀斑样损害 ,严重者可累及躯干等部位。患者在婴儿期或儿童期发病。③同一家系的不同患者表现度可不同。④除家系Ⅳ患者同患寻常型鱼鳞病以外 ,其它家系基本不伴发其他疾病。⑤家系Ⅴ出现“不规则显性”情况。结论 DSH为常染色体显性遗传病 ,有高度外显率 ,在中国人中并非罕见 。

Objective To study clinical and genetic features of dyschromatosis symmetric hereditaria (DSH) in Chinese. Methods The clinical and genetic features of DSH were studied by reviewing 8 families reported in China since 1980. Results ① The pattern of inheritance was autosomal dominant. ② The patients showed a mixed of hyperpigmented and hypopigmented macules symmetrically distributed on the extremities, which are typical DSH. A few of DSH patients showed freckle-like pigmented macules on the face or spreaded on the trunk. DSH occured in infancy or childhood. ③There was different expression in different patients of the same family. ④The patients with DSH in family Ⅳ were also affected by ichthyosis vulgaris. Patients with DSH in other families were not affected by other diseases. ⑤Family V showed a irregular dominance. Conclusion DSH generally shows an autosomal dominant pattern of inheritance with high penetrance and it is not a rare disease among Chinese. The typical DSH is characterized by a mixed of hyperpigmented and hypopigmented macules on the extremities. There are differences in the expression among patients.