Tophaceous gout of the nose in a male FMR1 premutation carrier

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. This is the firs...

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Veröffentlicht in:Clinical case reports 2022-11, Vol.10 (11), p.e6586-n/a
Hauptverfasser: 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.
Format: Artikel
Sprache:eng
Schlagworte:
Age
Arthritis
Ataxia
Case Report
Case reports
Chronic pain
Enzymes
Fingers & toes
FMR1
Foreign bodies
FXTAS
Genetic counseling
gout
Hypertension
Insomnia
Mutation
Nervous system
Nose
premutation
Rheumatism
tophi
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Zusammenfassung: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. This is the first documentation of immune dysregulation manifesting as uncontrolled gout in a male FXTAS premutation carrier. There is a need for further investigation of immune‐mediated disorders in male FXTAS carriers.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.6586