%0 Case Reports
%T Jaffe-Campanacci syndrome; a case series and review of the literature.
%A Sabry AO
%A Abolenain AS
%A Mostafa N
%A Ramadan A
%A Ghanem M
%J BMC Musculoskelet Disord
%V 25
%N 1
%D 2024 Jun 27
%M 38937801
%F 2.562
%R 10.1186/s12891-024-07581-0
%X <B>BACKGROUND: </B>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).<BR><B>METHODS: </B>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.<BR><B>CONCLUSIONS: </B>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.