Clinical Case Reports (Nov 2022)

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

DOI
https://doi.org/10.1002/ccr3.6586
Journal volume & issue
Vol. 10, no. 11
pp. n/a – n/a

Abstract

Read online

Abstract 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.

Keywords