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

Abstract

BackgroundJaffe-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 presentationA 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.ConclusionJaffe-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.

Non-ossifying fibroma: natural history with an emphasis on a stage-related growth, fracture risk and the need for follow-up

“…Multifocal NOFs have been reported in patients with the Jaffe–Campanacci syndrome (multiple NOFs, café-au-lait spots, mental retardation, hypogonadism or cryptorchidism, ocular anomalies or cardiovascular malformations) [ 7 – 9 ] and in patients with Type 1 neurofibromatosis [ 2 ].…”

Pathological fracture of non-ossifying fibroma associated with neurofibromatosis type 1

“…Non-operative management was permitted as the fracture was minimally displaced, and a tissue diagnosis was not required. The majority of previously reported cases of pathological fracture of NOF associated with NF1 have been managed with open reduction and internal fixation and in some cases curettage and bone grafting 10 13–17. Factors which would necessitate surgical intervention include a displaced or unstable fracture that could not be reduced or stabilised by closed means, open fractures, non-unions and sinister-appearing lesions requiring a histological diagnosis.…”

“…The incidence of NOFs associated with NF1 is likely underestimated as NOFs are often only diagnosed when a fracture occurs or the lesions become symptomatic. Cherix et al made the observation that the risk of fracture appears to be high in JCS as more than half of published cases presented with fracture 15. Moser et al described four radiographic patterns of multiple NOFs.…”

Non-ossifying fibroma (metaphyseal fibrous defect)

“…тен на коже (Café au lait spots), может сопровождаться отставанием в умственном развитии, гипогонадизмом или крипторхизмом, пороками развития сердечно-сосудистой системы, глаз, а также сочетаться с нейрофиброматозом [3,4].…”