罕见皮肤病与孤儿药

Rare skin diseases and orphan drugs

孤儿药是指用于治疗、预防或诊断某种罕见病的药物或疫苗。孤儿药因其受众较小,药物的注册和研发常有相应的扶持政策。皮肤罕见病种类众多,本文选取了皮肤科感染性皮肤病、代谢性皮肤病、自身免疫性皮肤病及遗传性皮肤病中的数种代表性疾病,并针对疾病的发病机制、治疗药物和治疗机制进行综述,以期能提高对皮肤科罕见病及孤儿药的认识。

Orphan drugs are medicines or vaccines intended to treat,prevent or diagnose a rare disease. As the number of patients is limited,registration and development of orphan drugs are supported by government legislations,regulations and policies. Aiming to enhance the understanding of rare dermatosis and related orphan drugs,this article chooses some presentative diseases in different categories of dermatosis to review,and explains the pathogenesis,therapeutic drugs and related mechanisms.