【摘要】 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 ,临床表现是以肢端的色素沉着和色素减退的融合斑为主更多还原

【Abstract】 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.更多还原