Vol 9, No 2 (2023)
Review paper
Published online: 2023-06-15

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Rare rheumatic disorders. Czech dysplasia (pseudorheumatoid arthritis)

Eugeniusz Józef Kucharz1
Rheumatology Forum 2023;9(2):88-91.

Abstract

Czech dysplasia also known as pseudorheumatoid arthritis dysplasia or progressive dysplasia with shortening of the toes is a rare autosomal-dominant disorder. The disease is caused by a mutation that altered the composition of the a-polypeptide chain of type II procollagen (arg75-cys). It results in arthritis, especially in the lower limbs, developing in childhood or adolescence, accompanied by rapidly progressing, early-onset osteoarthritis. Significant shortening of the third and fourth toes of both feet is a typical phenotypic hallmark of the disease. It is resulted from metatarsal bone dysplasia. The disease can lead to significant damage to the musculoskeletal system.

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