Treatment of a young child with multicentric carpotarsal osteolysis exhibiting joint inflammation and dysfunctional bone formation

Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia characterized by osteolysis of the carpal and tarsal bones. Antiresorptive agents have proven ineffective and the pathogenesis of MCTO remains poorly understood. We report a young child with a novel variant in MAFB who demonstra...

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Detalles Bibliográficos
Autores principales: Trinkino, Bailey, Ma, Nina S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10412863/
https://www.ncbi.nlm.nih.gov/pubmed/37576926
http://dx.doi.org/10.1016/j.bonr.2023.101701
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author Trinkino, Bailey
Ma, Nina S.
author_facet Trinkino, Bailey
Ma, Nina S.
author_sort Trinkino, Bailey
collection PubMed
description Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia characterized by osteolysis of the carpal and tarsal bones. Antiresorptive agents have proven ineffective and the pathogenesis of MCTO remains poorly understood. We report a young child with a novel variant in MAFB who demonstrated clinical improvement of joint symptoms following anti-rheumatic therapies. Also, radiographs from a young age suggest that dysfunctional bone formation may play a role in the skeletal phenotype of MCTO.
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spelling pubmed-104128632023-08-11 Treatment of a young child with multicentric carpotarsal osteolysis exhibiting joint inflammation and dysfunctional bone formation Trinkino, Bailey Ma, Nina S. Bone Rep Case Report Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia characterized by osteolysis of the carpal and tarsal bones. Antiresorptive agents have proven ineffective and the pathogenesis of MCTO remains poorly understood. We report a young child with a novel variant in MAFB who demonstrated clinical improvement of joint symptoms following anti-rheumatic therapies. Also, radiographs from a young age suggest that dysfunctional bone formation may play a role in the skeletal phenotype of MCTO. Elsevier 2023-07-19 /pmc/articles/PMC10412863/ /pubmed/37576926 http://dx.doi.org/10.1016/j.bonr.2023.101701 Text en © 2023 The Authors https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Trinkino, Bailey
Ma, Nina S.
Treatment of a young child with multicentric carpotarsal osteolysis exhibiting joint inflammation and dysfunctional bone formation
title Treatment of a young child with multicentric carpotarsal osteolysis exhibiting joint inflammation and dysfunctional bone formation
title_full Treatment of a young child with multicentric carpotarsal osteolysis exhibiting joint inflammation and dysfunctional bone formation
title_fullStr Treatment of a young child with multicentric carpotarsal osteolysis exhibiting joint inflammation and dysfunctional bone formation
title_full_unstemmed Treatment of a young child with multicentric carpotarsal osteolysis exhibiting joint inflammation and dysfunctional bone formation
title_short Treatment of a young child with multicentric carpotarsal osteolysis exhibiting joint inflammation and dysfunctional bone formation
title_sort treatment of a young child with multicentric carpotarsal osteolysis exhibiting joint inflammation and dysfunctional bone formation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10412863/
https://www.ncbi.nlm.nih.gov/pubmed/37576926
http://dx.doi.org/10.1016/j.bonr.2023.101701
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