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

Autor: Sabry AO; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt. Ahmed.O.Sabry@kasralainy.edu.eg., Abolenain AS; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt., Mostafa N; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt., Ramadan A; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt., Ghanem M; Department of Orthopedics, Faculty of Medicine, Cairo University, Cairo, Egypt.
Jazyk: angličtina
Zdroj: BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2024 Jun 27; Vol. 25 (1), pp. 502. Date of Electronic Publication: 2024 Jun 27.
DOI: 10.1186/s12891-024-07581-0
Abstrakt: 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.
(© 2024. The Author(s).)
Databáze: MEDLINE
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