Yıl: 2022 Cilt: 31 Sayı: 3 Sayfa Aralığı: 203 - 206 Metin Dili: İngilizce DOI: 10.5336/pediatr.2022-90069 İndeks Tarihi: 27-10-2022

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

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

Jüvenil Artritin Ayırıcı Tanısı: Hipertrofik Osteoartropati Görülen Nadir Bir Hastalık

Öz:
Pakidermoperiostozis, prostaglandin metabolizmasında yer alan genlerin (SCLO2A1 ve HPDG ) herhangi birindeki mutasyon sonucu meydana gelen, çomak parmak, periostoz ve yumu şak doku hiperpla- zisi ile karakterize nadir bir hastal ıktır. Hastalık inflamatuar artrite sebep olabilmekte ve jüvenil kronik artritin ay ırıcı tanısında yer al- maktadır. On yedi yaşında erkek hasta, 1 yıldır olan ama son 1 aydır kö- tüleşen, her iki diz ve ayak bileklerinde a ğrı ve şişlik yakınmasıyla çocuk romatolojisi poliklini ğine başvurdu. Fizik muayenesinde artrit dışında her iki el parmaklarında çomaklaşma, yüz ve saçlı deride artmış katlantılar ve kaba yüz görünümü vardı. Primer komplet pakidermope- riostozis düşünülen hastanın SLCO2A1 geninde homozigot mutasyonu saptandı. İnflamatuar artrit ile başvurup klinik ve radyolojik bulgular ile primer hipertrofik osteoartropati tanısı alan pediatrik bir olgu sunduk.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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APA Baba O, Kısaoğlu H, KALYONCU M (2022). Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy. , 203 - 206. 10.5336/pediatr.2022-90069
Chicago Baba Ozge,Kısaoğlu Hakan,KALYONCU MUKADDES Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy. (2022): 203 - 206. 10.5336/pediatr.2022-90069
MLA Baba Ozge,Kısaoğlu Hakan,KALYONCU MUKADDES Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy. , 2022, ss.203 - 206. 10.5336/pediatr.2022-90069
AMA Baba O,Kısaoğlu H,KALYONCU M Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy. . 2022; 203 - 206. 10.5336/pediatr.2022-90069
Vancouver Baba O,Kısaoğlu H,KALYONCU M Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy. . 2022; 203 - 206. 10.5336/pediatr.2022-90069
IEEE Baba O,Kısaoğlu H,KALYONCU M "Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy." , ss.203 - 206, 2022. 10.5336/pediatr.2022-90069
ISNAD Baba, Ozge vd. "Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy". (2022), 203-206. https://doi.org/10.5336/pediatr.2022-90069
APA Baba O, Kısaoğlu H, KALYONCU M (2022). Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy. Türkiye Klinikleri Pediatri Dergisi, 31(3), 203 - 206. 10.5336/pediatr.2022-90069
Chicago Baba Ozge,Kısaoğlu Hakan,KALYONCU MUKADDES Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy. Türkiye Klinikleri Pediatri Dergisi 31, no.3 (2022): 203 - 206. 10.5336/pediatr.2022-90069
MLA Baba Ozge,Kısaoğlu Hakan,KALYONCU MUKADDES Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy. Türkiye Klinikleri Pediatri Dergisi, vol.31, no.3, 2022, ss.203 - 206. 10.5336/pediatr.2022-90069
AMA Baba O,Kısaoğlu H,KALYONCU M Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy. Türkiye Klinikleri Pediatri Dergisi. 2022; 31(3): 203 - 206. 10.5336/pediatr.2022-90069
Vancouver Baba O,Kısaoğlu H,KALYONCU M Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy. Türkiye Klinikleri Pediatri Dergisi. 2022; 31(3): 203 - 206. 10.5336/pediatr.2022-90069
IEEE Baba O,Kısaoğlu H,KALYONCU M "Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy." Türkiye Klinikleri Pediatri Dergisi, 31, ss.203 - 206, 2022. 10.5336/pediatr.2022-90069
ISNAD Baba, Ozge vd. "Differential Diagnosis of Juvenile Arthritis: A Rare Disease with Hypertrophic Osteoarthropathy". Türkiye Klinikleri Pediatri Dergisi 31/3 (2022), 203-206. https://doi.org/10.5336/pediatr.2022-90069