Czech dysplasia mimicking rheumatoid arthritis: Case series and literature review.

Autor:	Moreira LA; Department of Internal Medicine-Rheumatology, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil., Carvalho DR; Medical Genetics Unit, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil., Santos SCL; Medical Genetics Unit, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil., Silva CCE; Medical Genetics Unit, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil., Ferreira BSA; Health Sciences Center, UNIFESO, Rio de Janeiro, Brazil., Cunha BMD; Cognitive Axis Unit, UNICEPLAC, Gama, Brasília, Brazil., Silveira KC; Skeletal Dysplasia Group, Medical Genetics, Translational Medicine Department, Faculty of Medical Sciences, University of Campinas, São Paulo, Brazil., Lacarrubba-Flores MDJ; Skeletal Dysplasia Group, Medical Genetics, Translational Medicine Department, Faculty of Medical Sciences, University of Campinas, São Paulo, Brazil., Cavalcanti DP; Skeletal Dysplasia Group, Medical Genetics, Translational Medicine Department, Faculty of Medical Sciences, University of Campinas, São Paulo, Brazil., Mota LMHD; Department of Medical Science, University of Brasilia, Asa Norte-Brasília, Brazil.
Jazyk:	angličtina
Zdroj:	Modern rheumatology [Mod Rheumatol] 2024 Jul 06; Vol. 34 (4), pp. 705-710.
DOI:	10.1093/mr/road070
Abstrakt:	Objective: This study reported a family with most members affected by Czech dysplasia. We examined the patients' clinical, laboratory, and imaging characteristics and evaluated their functional capacity using the Stanford Health Assessment Questionnaire-Disability Index. Methods: The method used was case series description and literature review. Results: This study showed that the pathogenic variant c.823C>T in the COL2A1 gene, which is a characteristic of Czech dysplasia, was found in 12 Brazilian individuals. Half of the patients in this family met the criteria for rheumatoid arthritis (RA) based on the 2010 American College of Rheumatology/European League Against Rheumatism classification criteria. Patients had arthritis in their hand joints, synovitis detected by ultrasound, and alterations in inflammatory tests. The Stanford Health Assessment Questionnaire-Disability Index assessment revealed that all patients exhibited moderate-to-severe functional disability. What distinguish Czech dysplasia from RA are an autosomal dominant inheritance pattern, platyspondyly, sensorineural hearing loss, and shortening of the metatarsal bones. Conclusions: It is important to consider Czech dysplasia as a potential differential diagnosis for RA. This autosomal dominant skeletal dysplasia is associated with normal height, short metatarsals, platyspondyly, hearing loss, enlarged epiphyses, and precocious osteoarthritis. Inflammatory findings such as arthritis, synovitis, and alteration of inflammatory markers may also be present in individuals with Czech dysplasia. (© Japan College of Rheumatology 2023. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
Databáze:	MEDLINE
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