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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Bibliographic Details
Published inBone Reports Vol. 19; p. 101701
Main Authors Trinkino, Bailey, Ma, Nina S.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.12.2023
Elsevier
Subjects
Bone formation
Case Report
Inflammation
MAFB
MCTO
Osteolysis
Inflammation
MAFB
Bone formation
Osteolysis
MCTO
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Summary: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.
ISSN:2352-1872
2352-1872
DOI:10.1016/j.bonr.2023.101701