Progress in the Diagnosis and Treatment and the Establishment of Care System for Rare Skin Diseases
10.12376/j.issn.2097-0501.2023.02.001
- VernacularTitle:皮肤罕见病诊治进展及管理体系建设
- Author:
Xiaohan LIU
1
;
Hongzhong JIN
1
Author Information
1. Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, National Clinical Research Center for Dermatologic and Immunologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
- Publication Type:Journal Article
- Keywords:
dermatosis;
rare diseases;
diagnosis;
treatment;
management
- From:
JOURNAL OF RARE DISEASES
2023;2(2):147-152
- CountryChina
- Language:Chinese
-
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.
