Rothmund-Thomson综合征

Rothmund-Thomson syndrome

报告1例Rothmund-Thomson综合征。患者男,18岁。临床表现为先天性皮肤异色症和光敏感18年。皮损组织病理检查:表皮萎缩变薄,真皮乳头水肿,血管扩张,管周见较多黑素颗粒。诊断为Rothmund-Thomson综合征。

Rothmund-Thomson syndrome （RTS） is a rare autosomal recessive disorder. The patient was an 18-year-old man with RTS typically, he presented with a characteristic congenital poikiloderma, photosensitivity for 18 years. The final diagnosis is Rothmund-Thomson syndrome.