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皮肤罕见病诊治进展及管理体系建设

刘晓涵 晋红中

刘晓涵, 晋红中. 皮肤罕见病诊治进展及管理体系建设[J]. 罕见病研究, 2023, 2(2): 147-152. doi: 10.12376/j.issn.2097-0501.2023.02.001
引用本文: 刘晓涵, 晋红中. 皮肤罕见病诊治进展及管理体系建设[J]. 罕见病研究, 2023, 2(2): 147-152. doi: 10.12376/j.issn.2097-0501.2023.02.001
LIU Xiaohan, JIN Hongzhong. Progress in the Diagnosis and Treatment and the Establishment of Care System for Rare Skin Diseases[J]. Journal of Rare Diseases, 2023, 2(2): 147-152. doi: 10.12376/j.issn.2097-0501.2023.02.001
Citation: LIU Xiaohan, JIN Hongzhong. Progress in the Diagnosis and Treatment and the Establishment of Care System for Rare Skin Diseases[J]. Journal of Rare Diseases, 2023, 2(2): 147-152. doi: 10.12376/j.issn.2097-0501.2023.02.001

皮肤罕见病诊治进展及管理体系建设

doi: 10.12376/j.issn.2097-0501.2023.02.001
基金项目: 

中央高水平医院临床科研业务费 2022-PUMCH-B-092

国家重点研发计划 2022YFC3601800

国家自然科学基金面上项目 82073450

详细信息
    通信作者:

    晋红中,E-mail:jinhongzhong@263.net

  • 中图分类号: R751

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

Funding: 

National High Level Hospital Clinical Research Funding 2022-PUMCH-B-092

The National Key Research and Development Program of China 2022YFC3601800

National Natural Science Foundation of China 82073450

More Information
  • 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。

     

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出版历程
  • 收稿日期:  2023-01-17
  • 录用日期:  2023-02-17
  • 网络出版日期:  2023-05-05

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