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Rare but not to be overlooked: Epidemiology and strategies for rare dermatological diseases in China

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Analysis reveals challenges in rare diseases in China, highlighting the need for improved genetic testing and healthcare access.

Epidemiological data show 62,590 cases of 166 rare diseases, indicating significant health challenges in China.
The incidence of eight diseases is ≥ 1/1,000, with a stark contrast between affluent and Western regions' usage of genetic testing.
Diagnostic delays average 1.4 years, compounded by limited clinician familiarity, which affects patient outcomes.
Policy initiatives support orphan drug development, yet regional implementation remains uneven, calling for more education and resources.

Han et al. (2025) studied this question.

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