Introduction: Progressive pseudorheumatoid dysplasia is a rare autosomal recessive disorder caused by a mutation in the Wnt1-inducible signaling protein 3 gene, with few cases reported.
Case report: We discuss the case of a 19-year-old Caucasian male patient with polyarticular involvement, including shoulders, elbows, wrists, hands, spine, hips, knees, and notably the ankles. Despite a well-conducted medical treatment, due to the rapid progression of his condition, the patient underwent bilateral total hip and knee arthroplasties, as well as left ankle replacement.
Conclusion: This case report highlights the importance of conducting the diagnosis of these rare diseases and the important place of joint replacements in the recovery of joint functions, even in young patients.
Keywords: Progressive pseudorheumatoid dysplasia; WISP3; mutation; total arthroplasty.
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