METHODS: 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.
CONCLUSIONS: 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.
方法:在本文中,我们介绍了2例患者的病例系列。第一例是一名13岁男性,患有Jaffe-Campanacci综合征,表现为股骨远端骨折。他的父亲具有Jaffe-Campanacci综合征和NF-1的积极特征,而他的姐姐只有NF-1的特征,因此我们提出了两者。
结论:Jaffe-Campanacci与1型神经纤维瘤病有明确的关系,这仍然需要基因建立。由于长骨的几个大的非骨化纤维瘤的存在,它与病理性骨折的显著风险有关。我们同意以前的作者,应该对所有新诊断的1型神经纤维瘤病患者进行骨筛查,识别非骨化性纤维瘤并评估病理性骨折的可能性。此外,NF-1患者的兄弟姐妹应筛查可能携带高病理性骨折风险的多个NOF。