Misleading Joint Deformities: A Case of Progressive Pseudorheumatoid Dysplasia Masquerading as Juvenile Idiopathic Arthritis

Progressive pseudorheumatoid dysplasia is a rare genetic disease caused by mutation in WISP3 gene and is inherited in an autosomal recessive manner. PPRD typically begins in childhood period with painless progressive deformities of fingers joints, later involving larger joints and the spine, leading to gait disturbances, angular limb deformities and secondary osteoarthritis over time. Diagnosis is challenging and is often misdiagnosed as Juvenile Idiopathic Arthritis. Here we report a case of 41 years old patient who remained undiagnosed for 36 years.