ReviewCurrent osteoporosis reports2023
Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.
Review in Current osteoporosis reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- A novel variant in MAFB in a patient with hereditary multicentric carpo-tarsal osteolysis.Archives of osteoporosis · 2026Article
- Multicentric carpo-tarsal osteolysis: the importance of imaging studies, genetic findings and clinical expertise in differential diagnosis and follow-up-a case report.Skeletal radiology · 2026Article
- Article
- Uncovering the molecular and immunological defects in multicentric carpotarsal osteolysis syndrome: identification of relevant biomarkers.Frontiers in immunology · 2025Article
- Multicentric carpotarsal osteolysis syndrome with variants of MAFB gene: a case report and literature review.Pediatric rheumatology online journal · 2024Review
- Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and "Function Profile": a rehabilitative approach.Orphanet journal of rare diseases · 2023Review
- Treatment of a young child with multicentric carpotarsal osteolysis exhibiting joint inflammation and dysfunctional bone formation.Bone reports · 2023Article
- Denosumab Treatment Does Not Halt Progression of Bone Lesions in Multicentric Carpotarsal Osteolysis Syndrome.JBMR plus · 2023Article
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 2 countries.
Funding
Abstract
purpose of reviewMulticentric carpotarsal osteolysis (MCTO) is an ultra-rare disorder characterized by osteolysis of the carpal and tarsal bones, subtle craniofacial deformities, and nephropathy. The molecular pathways underlying the pathophysiology are not well understood. RECENT
findingsMCTO is caused by heterozygous mutations in MAFB, which encodes the widely expressed transcription factor MafB. All MAFB mutations in patients with MCTO result in replacement of amino acids that cluster in a phosphorylation region of the MafB transactivation domain and account for a presumed gain-of-function for the variant protein. Since 2012, fewer than 60 patients with MCTO have been described with 20 missense mutations in MAFB. The clinical presentations are variable, and a genotype-phenotype correlation is lacking. Osteolysis, via excessive osteoclast activity, has been regarded as the primary mechanism, although anti-resorptive agents demonstrate little therapeutic benefit. This paper appraises current perspectives of MafB protein action, inflammation, and dysfunctional bone formation on the pathogenesis of the skeletal phenotype in MCTO. More research is needed to understand the pathogenesis of MCTO to develop rational therapies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.