皮肤罕见病诊治进展及管理体系建设

Progress in the Diagnosis and Treatment and the Establishment of Care System for Rare Skin Diseases

  • 摘要: 皮肤罕见病种类多样,诊疗中面临诸多挑战及困难。近年来皮肤罕见病的诊断水平不断提高,以二代测序技术为代表的分子诊断工具,可有效辅助临床建立罕见病精准诊断。孤儿药研发及基因治疗不断取得突破和进步,为皮肤罕见病患者带来了曙光。建立科学的疾病管理体系、分级转诊网络及规范化的诊疗路径对提高皮肤罕见病的诊治水平至关重要。本文总结了目前皮肤罕见病的诊疗进展,并对未来发展做出展望。

     

    Abstract: Rare skin diseases are various in kinds facing many challenges and difficulties in diagnosis and treatment. Recently, the diagnosis of rare skin diseases has improved continuously. Molecular diagnostic tool, a representation of the next generation sequencing technology, can effectively assist the accuracy of clinical diagnosis for rare diseases. The research and development of orphan drugs and gene therapy have made continuous breakthroughs and progress, bringing hope to patients with rare skin diseases. It is crucial to establish scientific disease management system of the disease, layered referral networks, and the standardized clinical pathways to improve the diagnosis and treatment level of rare skin diseases.This article provides a brief overview of the progress in the diagnosis and treatment of rare skin diseases and explore the future possibilities.

     

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