Tophaceous gout of the nose in a male FMR1 premutation carrier

Si Jie Tang, Shanthi Giri, Nima Pahlavan, Sophia H. Han,Ellery R. Santos, Glenda Espinal,Ramkumar Aishworiya,Andrea Schneider,David Hessl,Susan M. Rivera,Randi J. Hagerman

CLINICAL CASE REPORTS（2022）

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摘要

Premutation alleles with 55-200 CGG repeats in FMR1 can lead to fragile X-associated tremor/ataxia syndrome (FXTAS). In this case study, we report uncontrolled gout in a 68-year-old male with FXTAS with multiple sites of involvement including a rare gouty tophus in the nasal region.

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关键词

FMR1,FXTAS,gout,premutation,tophi

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