Erdoğan Furkan, Bayar Ercan, Albayrak Bedirhan, Karal Mustafa, Cengiz Tolgahan, Büyükceran İsmail, Dabak Nevzat
Orthopedics and Traumatology, Ondokuz Mayis University, Samsun, TUR.
Orthopedics and Traumatology, Tosya State Hospital, Kastamonu, TUR.
Cureus. 2024 Dec 15;16(12):e75726. doi: 10.7759/cureus.75726. eCollection 2024 Dec.
Jaffe-Campanacci syndrome (JCS) is a rare disorder characterized by multiple non-ossifying fibromas (NOFs), café-au-lait spots, and other features such as mental retardation and cryptorchidism. It is often clinically and genetically similar to neurofibromatosis type 1 (NF1), complicating diagnosis. This report presents a 17-year-old male with right knee pain, café-au-lait spots, and axillary freckling. Radiographs revealed NOFs in the distal femur and proximal tibia. Surgery was performed, and pathological analysis confirmed NOFs, while genetic testing revealed a pathogenic NF1 mutation. JCS remains a poorly defined syndrome, with ongoing debate about its distinction from NF1. Surgical intervention is often necessary due to the high risk of pathological fractures in patients with large NOFs. This case supports the association between JCS and NF1 and highlights the importance of genetic testing in differential diagnosis. This case report also provides a brief literature discussion on the very rare syndrome JCS.
贾菲-坎帕纳奇综合征（JCS）是一种罕见的疾病，其特征为多发性非骨化性纤维瘤（NOF）、咖啡斑以及其他特征，如智力发育迟缓及隐睾症。它在临床和遗传学方面常与1型神经纤维瘤病（NF1）相似，这使得诊断变得复杂。本报告介绍了一名17岁男性，有右膝疼痛、咖啡斑及腋窝雀斑。X线片显示股骨远端和胫骨近端有NOF。进行了手术，病理分析证实为NOF，而基因检测发现了致病性NF1突变。JCS仍然是一种定义不明确的综合征，关于它与NF1的区别仍存在争议。由于患有大型NOF的患者发生病理性骨折的风险很高，手术干预往往是必要的。该病例支持了JCS与NF1之间的关联，并强调了基因检测在鉴别诊断中的重要性。本病例报告还对非常罕见的JCS综合征进行了简要的文献讨论。
