Progressive Pseudorheumatoid Condrodysplasia, an Unusual Cause of Joint Swelling and Stiffness

Progressive pseudorheumatoid condrodysplasia (PPRC) is a rare autosomal recessive skeletal dysplasia characterized by joint swelling, stiffness, generalized progressive joint contractures and progressive arthropathy with the negative laboratory markers of juvenile idiopathic arthritis. It is caused by mutations of the Wntl-inducible signalling pathway protein 3 (W(SP3) gene located on chromosome 6q22, encoding a cysteine-rich connective tissue growth factor, which preserves cartilage integrity in chondrocytes. Here, we describe two new patients from same consanguineous family. The diagnosis was made by clinical and radiologic findings, molecular analysis of the WISP3 gene revealed a c.793-794 delTG (p.C265Lfs*31) mutation. Although life expectancy is normal, the prognosis of PPRC can be very poor, most patients are wheelchair-bound from an early age. Early recognition and appropriate genetic counselling is essential in order to avoid unnecessary treatment and further recurrence.