Steinmetz J C, Pilon V A, Lee J K
Department of Pathology, Albany Medical College, New York 12208.
J Pediatr Orthop. 1988 Sep-Oct;8(5):602-4. doi: 10.1097/01241398-198809000-00021.
The case of a 15-year-old white boy with a clinical diagnosis of von Recklinghausen neurofibromatosis and a history of multiple fractures of long bones is presented. Radiographic studies and tissue biopsy revealed the presence of multiple nonossifying fibromas of bone. Review of the clinical features and correlation with the pathologic data support a diagnosis of Jaffe-Campanacci syndrome, a malformation syndrome different from but possibly related to von Recklinghausen neurofibromatosis.
本文报告了一名15岁白人男孩的病例，其临床诊断为冯·雷克林豪森神经纤维瘤病，并有多次长骨骨折史。影像学检查和组织活检显示存在多发性骨非骨化性纤维瘤。对临床特征的回顾以及与病理数据的相关性支持了贾菲-坎帕纳奇综合征的诊断，这是一种与冯·雷克林豪森神经纤维瘤病不同但可能相关的畸形综合征。
