Garabano G, Jaime A, Alonso M, Pesciallo C

Language: Spanish
References: 14
Page: 188-192
PDF size: 231.40 Kb.

ABSTRACT

Progressive pseudorheumatoid dysplasia (PPD) is an autosomal recessive hereditary disease of very low prevalence. It is characterized by the affection of multiple joints, generating arthrosis and progressive deformities from a very young age, which significantly affect the quality of life of patients. Its diagnosis is only confirmed by genetic testing, and no specific pharmacological treatment is still available. In the case of hip involvement, one treatment option is arthroplasty. In this case report, we present a 15-year-old boy with bilateral coxarthrosis secondary to PPD who underwent bilateral total hip arthroplasty in two stages. We highlight the characteristics of this rare entity, the intraoperative findings, the functional outcomes, and the impact on quality of life.

REFERENCES

1. Torreggiani S, Torcoletti M, Campos-Xavier B, Baldo F, Agostoni C, Superti-Furga A, et al. Progressive pseudorheumatoid dysplasia: a rare childhood disease. Rheumatol Int. 2019; 39(3): 441-52.

2. Wang W, Xiao G, Han Q, Ding J, Xie R, Jia J, et al. Progressive pseudorheumatoid dysplasia involving a novel WISP3 mutation and sacroiliac and hip arthritis: a case report and literature review. Medicine (Baltimore). 2023; 102(27): e34099.

3. Al Kaissi A, Kenis V, Jemaa LB, Sassi H, Shboul M, Grill F, et al. Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia. Clin Rheumatol. 2020; 39(2): 553-60.

4. Li C, Alemany-Ribes M, Raftery RM, Nwoko U, Warman ML, Craft AM. Directed differentiation of the human pluripotent stem cell into articular cartilage reveals effects caused by absence of WISP3, the gene responsible for progressive pseudorheumatoid arthropathy of childhood. Ann Rheum Dis. 2023; 82(12): 1547-57.

5. El Dessouki D, Amr K, Kholoussi N, Rady HM, Temtamy SA, Abdou MMS, et al.. Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia. Am J Med Genet A. 2023; 191(9): 2329-36.

6. Feng B, Xiao K, Ren Y, Xia Z, Jin J, Wu Z, et al. Mid-term outcome of total hip arthroplasty in patients with progressive pseudorheumatoid dysplasia. J Clin Rheumatol. 2022; 27(4): 156-60.

7. Ekbote AV, Danda D, Kumar S, Danda S, Madhuri V, Gibikote S. A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis. Semin Arthritis Rheum. 2013; 42(6): 582-9.

8. Omar AA, Ahmed S, Rodrigues JC, Kayiza A, Owino L. Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report. J Med Case Rep. 2021; 15(1): 551.

9. Bennani L, Amine B, Ichchou L, Lazrak N, Hajjaj-Hassouni N. Progressive pseudorheumatoid dysplasia: three cases in one family. Joint Bone Spine. 2007; 74(4): 393-5.

10. Gao YS, Ding H, Zhang CQ. Total hip arthroplasty in a 17-year-old girl with progressive pseudorheumatoid dysplasia. J Clin Rheumatol. 2013; 19(3): 138-41.

11. Ehl S, Uhl M, Berner R, Bonafé L, Superti-Furga A, Kirchhoff A. Clinical, radiographic and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. Rheumatol Int. 2004; 24(1): 53-6.

12. Mampaey S, Vanhoenacker F, Boven K, Van Hul W, De Schepper A. Progressive pseudorheumatoid dysplasia. Eur Radiol. 2000; 10(11): 1832-5.

13. Giray E, Yagci I, Elcioglu HN. Progressive pseudorheumotoid dysplasia: a presentation of four cases with slow and rapid progression and effects of early rehabilitation program. Turk J Phys Med Rehabil. 2019; 65(3): 290-7.

14. Yang X, Song Y, Kong Q. Diagnosis and surgical treatment of progressive pseudorheumatoid dysplasia in an adult with severe spinal disorders and polyarthropathy. Joint Bone Spine. 2013; 80(6): 650-2.