Jaffe-Campanacci syndrome; a case series and review of the literature

Author:

Sabry Ahmed O.,Abolenain Ahmed Salem,Mostafa Noureldin,Ramadan Abdelraouf,Ghanem Mohamed

Abstract

Abstract Background Jaffe-Campanacci syndrome is a rare syndrome, characterized by multiple non-ossifying fibromas (NOF) and cafe-au-lait patches. The name was coined in 1982 by Mirra after Jaffe who first described the case in 1958. Although it’s suggested there is a relation with Neurofibromatosis type 1, there is still no consensus on whether Jaffe-Campanacci syndrome is a subtype or variant of neurofibromatosis-1(NF-1). Case presentation In this article, we present a case series of 2 patients. The first case is a 13-year-old male with Jaffe-Campanacci syndrome who presented with a distal femur fracture. His father had positive features of both Jaffe-Campanacci syndrome and NF-1, while his sister only had features of NF-1, so we presented both. Conclusion Jaffe-Campanacci has a clear relationship with type 1 neurofibromatosis, which still has to be genetically established. Due to the presence of several large non-ossifying fibromas of the long bones, it is linked to a significant risk of pathological fractures. We concur with previous authors, that an osseous screening program should be performed for all patients with newly diagnosed type 1 neurofibromatosis, to identify non-ossifying fibromas and assess the potential for pathological fracture. Moreover, siblings of patients with NF-1 should be screened for multiple NOFs that may carry a high risk of pathological fractures.

Funder

Cairo University

Publisher

Springer Science and Business Media LLC

Reference25 articles.

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3. Campanacci M, Laus M, Boriani S. Multiple non-ossifying fibromata with extraskeletal anomalies: a new syndrome? J Bone Joint Surg Br. 1983;65:627–32. https://doi.org/10.1302/0301-620x.65b5.6643569.

4. Al-Rikabi AC, Ramaswamy JC, Bhat VV. Jaffe-Campanacci syndrome. Saudi Med J. 2005;26:104–6.

5. Błaż M, Palczewski P, Swiątkowski J, Gołębiowski M. Cortical fibrous defects and non-ossifying fibromas in children and young adults: the analysis of radiological features in 28 cases and a review of literature. Pol J Radiol. 2011;76:32–9.

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