Article ID: 2025.01039
Rare skin diseases in China, recognized through the 2018 National Rare Disease List (121 conditions), pose substantial epidemiological and systemic challenges. The National Rare Diseases Registry System (NRDRS) documented 62,590 cases (2016–2020) of 166 diseases, and yet data remain fragmented: only 53.1% of rare diseases are prevalent and they are found in 94.1% of regions. Eight diseases have an incidence of ≥ 1/1,000. Regional disparities persist, as 60% of cases originate from affluent East/North China, contrasting with lower utilization of genetic testing in Western regions (71.9% vs. 79.2% in the East). Diagnostic delays average 1.4 years, with patients visiting 3.2 hospitals and enduring 1.6 misdiagnoses, exacerbated by limited physician awareness — only 5.3% of clinicians report moderate familiarity with rare diseases. Therapeutic advances, including B cell-targeted therapies (e.g., rituximab), coexist with barriers like orphan drug affordability, exemplified by projected annual budgets exceeding CNY 179 million for 98 patients. Clinical trials increased at a rate of 28.2% annually (2013–2022), yet China lags behind its global counterparts in trial diversity. Policy initiatives, such as the 2019 Drug Administration Law, prioritize orphan drug development but face challenges in regional implementation and insurance coverage. Critical needs include equitable healthcare access, standardized registries, and clinician education. Collaborative networks (e.g., NRDRS-linked biobanks) and media-driven awareness campaigns are vital to alleviating systemic gaps for China's estimated 20 million patients with rare diseases.
