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Open Access Case report

Multiple non-ossifying fibromas as a cause of pathological femoral fracture in Jaffe-Campanacci syndrome

Stéphane Cherix1*, Yann Bildé1, Fabio Becce2, Igor Letovanec3 and Hannes A Rüdiger1

Author Affiliations

1 Department of Orthopaedics and Traumatology, Lausanne University Hospital, Avenue Pierre-Decker 4, 1011 Lausanne, Switzerland

2 Department of Diagnostic and Interventional Radiology, Lausanne University Hospital, Lausanne, Switzerland

3 University Institute of Pathology, Lausanne University Hospital, Lausanne, Switzerland

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BMC Musculoskeletal Disorders 2014, 15:218  doi:10.1186/1471-2474-15-218

Published: 26 June 2014

Abstract

Background

Jaffe-Campanacci is a rare syndrome characterised by the association of café-au-lait spots, axillary freckles, multiple non-ossifying fibromas of the long bones and jaw, as well as some features of type 1 neurofibromatosis. There are less than 30 reported cases, and a genetic profile has not yet been determined. Furthermore, it has not been clarified whether it is a subtype of type 1 neurofibromatosis or a separate syndrome. The risk of pathological fracture is over 50%, due to substantial cortical thinning of the weight-bearing bones.

Case presentation

A 17-year-old female patient, known for type 1 neurofibromatosis, presented with a low-energy distal femoral fracture due to disseminated large non-ossifying fibromas. Investigations revealed all of the distinctive signs of Jaffe-Campanacci syndrome. Both her distal femurs and proximal tibias exhibited multiple non-ossifying fibromas. The fracture was treated by open reduction and internal plate fixation. Some of the bony lesions were biopsied to confirm the diagnosis. The fracture healed eventless, as did the lesions biopsied or involved in the fracture. The other ones healed after curettage and bone grafting performed at the time of plate removal.

Conclusion

Jaffe-Campanacci is a rare syndrome having unclear interactions with type 1 neurofibromatosis, which still needs to be characterised genetically. It is associated with a high risk of pathological fracture, due to the presence of multiple large non-ossifying fibromas of the long bones, with an expected normal healing time. Curettage and bone grafting promote healing of the lesions and should be considered to prevent pathological fracture. We agree with other authors that all patients with newly-diagnosed type 1 neurofibromatosis should undergo an osseous screening to detect disseminated non-ossifying fibromas, and evaluate the inherent risk of pathological fracture.

Keywords:
Jaffe-Campanacci syndrome; Multiple non-ossifying fibromas; Pathological fracture; Café-au-lait spots; Axillary freckles; Type 1 neurofibromatosis