AI Article Synopsis
- Progressive pseudorheumatoid dysplasia is a rare genetic disorder caused by a mutation in the Wnt1-inducible signaling protein 3 gene, with limited reported cases.
- The case of a 19-year-old Caucasian male is presented, who experienced severe joint involvement and underwent multiple surgeries, including total hip and knee replacements due to rapid disease progression.
- This report emphasizes the need for accurate diagnosis of rare diseases and the potential benefits of joint replacements to restore function, even in younger patients.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11043994 | PMC |
| http://dx.doi.org/10.13107/jocr.2024.v14.i04.4344 | DOI Listing |
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