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.

Detalles Bibliográficos
Autores principales: Tang, Si Jie, Giri, Shanthi, Pahlavan, Nima, Han, Sophia H., Santos, Ellery R., Espinal, Glenda, Aishworiya, Ramkumar, Schneider, Andrea, Hessl, David, Rivera, Susan M., Hagerman, Randi J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701845/
https://www.ncbi.nlm.nih.gov/pubmed/36447664
http://dx.doi.org/10.1002/ccr3.6586
Descripción
Sumario: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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