Rare rheumatic disorders. Czech dysplasia (pseudorheumatoid arthritis)
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.
Keywords: Czech dysplasiapseudorheumatoid arthritisprogressive dysplasia
References
- Williams CJ, Considine EL, Knowlton RG, et al. Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-to-Cys mutation in the procollagen type II gene (COL2A1). Hum Genet. 1993; 92(5): 499–505.
- Reginato AJ, Passano GM, Neumann G, et al. Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings. Arthritis Rheum. 1994; 37(7): 1078–1086.
- Marik I, Marikova O, Zemkova D, et al. Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. Skeletal Radiol. 2004; 33(3): 157–164.
- Marik I, Marikova O, Zemkova D, et al. Czech dysplasia metatarsal type. Hungarian Radiol. 2005; 79: 89–93.
- Kozlowski K, Marik I, Marikova O, et al. Czech dysplasia metatarsal type. Am J Med Genet A. 2004; 129A(1): 87–91.
- Hoornaert KP, Marik I, Kozlowski K, et al. Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet. 2007; 15(12): 1269–1275.
- Hoornaert KP, Dewinter C, Vereecke I, et al. The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. J Med Genet. 2006; 43(5): 406–413.
- Tzschach A, Tinschert S, Kaminsky E, et al. Czech dysplasia: report of a large family and further delineation of the phenotype. Am J Med Genet A. 2008; 146A(14): 1859–1864.
- Matsui Y, Michigami T, Tachikawa K, et al. Czech dysplasia occurring in a Japanese family. Am J Med Genet A. 2009; 149A(10): 2285–2289.
- Kucharz EJ. The collagens: biochemistry and pathophysiology. Springer Verlag, Berlin–Heidelberg–New York 1992: 1–430.
- Bleasel JF, Bisagni-Faure A, Holderbaum D, et al. Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis. J Rheumatol. 1995; 22(2): 255–261.
- Bleasel JF, Holderbaum D, Mallock V, et al. Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1? J Rheumatol. 1996; 23(9): 1594–1598.
- Burrage LC, Lu JT, Liu DS, et al. Early childhood presentation of Czech dysplasia. Clin Dysmorphol. 2013; 22(2): 76–80.
- Lopponen T, Korkko J, Lundan T, et al. Childhood-onset osteoarthritis, tall stature, and sensoneural hearing loss associated with Arg75-Cys mutation in procollagen type Ii gene. Arthritis Rheum. 2004; 51: 157–164.
- Carlson KM, Yamaga KM, Reinker KA, et al. Precocious osteoarthritis in a family with recurrent COL2A1 mutation. J Rheumatol. 2006; 33: 1133–1136.
