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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...

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Detalles Bibliográficos
Autores principales: Xiao, Ke, Li, Tao, Jiang, Yaping, Li, Zheng, Zhu, Qiankun, Wu, Zhihong, Weng, Xisheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
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
Descripción
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.