关键词: 肝豆状核变性, 青霉胺, 皮肤

Abstract: Objective To analyze the clinical characteristics of 3 patients with Wilson's disease who suffered from skin striae atrophicae after treatment with penicillamine, and to conduct literature review to extensively profile adverse events of penicillamine-induced skin changes. Methods A retrospective analysis was performed on the clinical data of 3 patients with Wilson's disease who developed skin striae atrophicae after administration of penicillamine in the Department of Pediatrics of Peking Union Medical College Hospital from August 2013 to August 2024,and a literature review was performed. Results Three patients with Wilson's disease all developed skin striae atrophicae after taking penicillamine. Among them, 2 patients reduced or stopped using penicillamine shortly after the appearance of striae atrophicae, and their striae atrophicae improved significantly. After taking penicillamine again, their skin changes remained stable. A literature research showed that 48 patients with Wilson's disease experienced penicillamine induced skin changes, and no similar reports of striae atrophicae were found. The reported skin changes included elastosis perforans serpiginosa,skin laxity or wrinkled skin,pseudo-pseudoxanthoma elasticum,increased skin fragility,pigmentation and so on. Among them, 24 patients reduced or stopped penicillamine,and 18 patients (75%) had improved or maintained stable skin changes. Conclusions Penicillamine can cause various skin changes in patients with Wilson's disease, including striae atrophicae, which can be improved after reducing or discontinuing taking penicillamine. And skin striae atrophicae can maintain stable even if they taking penicillamine again.

Key words: hepatolenticular degeneration, penicillamine, skin