Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy

نویسندگان

چکیده

Pachydermoperiostosis is a rare disease characterized by clubbing, periostosis, and soft tissue swelling, caused mutations in any of the genes involved prostaglandin metabolism (SCLO2A1 HPDG). Disease may also cause inflammatory arthritis included differential diagnosis juvenile chronic arthritis. A 17-year-old boy presented to our pediatric rheumatology outpatient clinic with complaints pain swelling bilateral knees ankles that has been present for one year but got worsened last month. On physical examination he had rough face furrowing skin on scalp, clubbing all digits. homozygote mutation detected SLCO2A1 gene patient was diagnosed as primary complete pachydermoperiostosis. Herein, we case arthritis, pachydermoperiostosis based clinical radiological findings.

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ژورنال

عنوان ژورنال: Turkiye Klinikleri Journal of Pediatrics

سال: 2022

ISSN: ['1300-0381']

DOI: https://doi.org/10.5336/pediatr.2022-90069