Dataset Information
Tophaceous gout of the nose in a male FMR1 premutation carrier.
Ontology highlight
ABSTRACT:
SUBMITTER: Tang SJ
PROVIDER: S-EPMC9701845 | biostudies-literature | 2022 Nov
REPOSITORIES: biostudies-literature
Publications
Tophaceous gout of the nose in a male <i>FMR1</i> premutation carrier.
Clinical case reports 20221127 11
Premutation alleles with 55-200 CGG repeats in <i>FMR1</i> 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. ...[more]