Jaffé-Campanacci syndrome: an extremely rare cause of pathologic fracture of the femur

Détails

ID Serval
serval:BIB_527A52BFF5AB
Type
Actes de conférence (partie): contribution originale à la littérature scientifique, publiée à l'occasion de conférences scientifiques, dans un ouvrage de compte-rendu (proceedings), ou dans l'édition spéciale d'un journal reconnu (conference proceedings).
Sous-type
Poster: résume de manière illustrée et sur une page unique les résultats d'un projet de recherche. Les résumés de poster doivent être entrés sous "Abstract" et non "Poster".
Collection
Publications
Titre
Jaffé-Campanacci syndrome: an extremely rare cause of pathologic fracture of the femur
Titre de la conférence
73. Congrès Annuel de la Société Suisse d'Orthopédie et de Traumatologie
Auteur(s)
Cherix S., Bildé Y., Becce F., Letovanec I., Rüdiger HA
Adresse
Lausanne, Suisse, 26-28 juin 2014
Statut éditorial
Publié
Date de publication
2014
Langue
anglais
Résumé
Introduction: Non-ossifying fibromas are common benign bone tumors of children and young adults. They are usually single, asymptomatic and regress spontaneously in adulthood. Some rare cases of pathologic fractures have been described. Jaffé-Campanacci syndrome is the association of multiple non-ossifying fibromas, "café-au-lait" spots and some degree of type 1 neurofibromatosis. While the relationship between the two entities remains unclear, there seems to be some genetic similarities (partial or complete deletion of the gene NF1).
Case Report: A 17 yo female patient with a neurofibromatosis type 1 was referred to our tertiary centre with a pathologic fracture of the distal femur through a non-ossifying fibroma. She had a slight mental retardation and "café-au-lait" spots. Imaging revealed multiple typical non-ossifying fibromas of both distal femurs and proximal tibias. There was no impending fracture of the controlateral side, and no other findings on thoraco-abdominal CT scanner. The fracture was treated by minimal invasive plate osteosynthesis. Histological analysis of tissue samples taken during the intervention confirmed the histologic diagnosis of non-ossifying fibroma. The fracture healed eventless and the patient returned to work after 3 months. At 12 months follow-up, the patient remained pain-free. Imaging revealed remodelling of the lesions.
Conclusion: Jaffé-Campanacci syndrome is an extremely rare cause of pathologic femur fracture. These fractures can be treated like any other, and good outcome is expected. There is still no consensus in regards to definition of the disease and its relationship with type 1 neurofibromatosis.
Création de la notice
14/07/2014 10:04
Dernière modification de la notice
20/08/2019 15:07
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