Tophaceous gout of the nose in a male FMR1 premutation carrier

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.

Automated summary

In this case study, we report a 68-year-old male with FXTAS who presented with uncontrolled gout involving multiple sites, including a rare gouty tophus in the nasal region.