ArticleCureus2024
Jaffe-Campanacci Syndrome: A Case Report and Review of the Literature.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified PathogenicMolecular syndromology · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Jaffe-Campanacci syndrome (JCS) is a rare disorder characterized by multiple non-ossifying fibromas (NOFs), café-au-lait spots, and other features such as mental retardation and cryptorchidism. It is often clinically and genetically similar to neurofibromatosis type 1 (NF1), complicating diagnosis. This report presents a 17-year-old male with right knee pain, café-au-lait spots, and axillary freckling. Radiographs revealed NOFs in the distal femur and proximal tibia. Surgery was performed, and pathological analysis confirmed NOFs, while genetic testing revealed a pathogenic NF1 mutation. JCS remains a poorly defined syndrome, with ongoing debate about its distinction from NF1. Surgical intervention is often necessary due to the high risk of pathological fractures in patients with large NOFs. This case supports the association between JCS and NF1 and highlights the importance of genetic testing in differential diagnosis. This case report also provides a brief literature discussion on the very rare syndrome JCS.
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Registered trials
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