Clinical Case of Col2a1-Associated Progressive Pseudorheumatoid Dysplasia

Modern medical scientific sources offer descriptions of cases of hereditary bone dysplasias occurring under the guise of rheumatoid arthritis (RA). These include the progressive pseudorheumatoid dysplasia (PPRD), an autosomal recessive disease caused by defects in the CCN6 gene, as well as autosomal dominant forms of pseudorheumatoid dysplasia associated with variants in the COL2A1 gene. Though there are no references to pseudorheumatoid dysplasia case observations in available domestic sources. This Article represents a discussion over the bibliographic sources on PPRD and a clinical case observation of a patient initially observed for RA but diagnosed subsequently with an autosomal dominant form of bone dysplasia caused by a de novo variant in the COL2A1 gene.