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Ilizarov technique in an adolescent patient with progressive pseudorheumatoid dysplasia: A case report
RATIONALE: Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive inherited disease that causes severe systemic joint deformity and articular dysfunction in young patients. PATIENT CONCERNS: Ilizarov technique treatment in PPD patients has never been reported before. DIAGNOSES: A...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081158/ https://www.ncbi.nlm.nih.gov/pubmed/30075503 http://dx.doi.org/10.1097/MD.0000000000011375 |
Sumario: | RATIONALE: Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive inherited disease that causes severe systemic joint deformity and articular dysfunction in young patients. PATIENT CONCERNS: Ilizarov technique treatment in PPD patients has never been reported before. DIAGNOSES: A 17-year-old male patient presented with a 10-year history of polyarthritis and 4-year history of progressive hip and knee pain and stiffness. Genetic testing for the WISP3 gene was done and showed compound heterozygous mutations: NM_198239.1 (WISP3):c.1064_1065dupGT (p.Gln356ValfsTer33) and NM_198239.1 (WISP3):c.643+2T > C. INTERVENTIONS: Taking his young age into consideration, the Ilizarov external fixation technique was adopted for the treatment of the deformity in knees. OUTCOMES: One year after the operation, the improvement of joint deformity was satisfactory. LESSONS: The Ilizarov technique is economical and less invasive, and most importantly, it can delay the possible arthroplasty. It gives young PPD patients with arthropathy an alternative treatment. |
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