Published online Apr 6, 2024. doi: 10.12998/wjcc.v12.i10.1785
Peer-review started: October 28, 2023
First decision: January 17, 2024
Revised: January 30, 2024
Accepted: March 13, 2024
Article in press: March 13, 2024
Published online: April 6, 2024
Processing time: 156 Days and 20 Hours
Jaffe-Campanacci syndrome (JCS) is a very rare syndrome. The treatment of JCS is more conservative, and most authors recommend that no surgery should be done in asymptomatic patients. The conventional concept holds that the natural course of non-ossifying fibromas (NOFs) grows with the development of bones, and the osteolytic region gradually stops expanding and self-healing through bone ossifying around the lesion and ossification within the lesion. But in this case, the bone lesions were potentially biologically aggressive, which led to severe limb deformities and pain.
We present the case of a 5-year-old girl with JCS presenting with not only NOF sand café-au-lait macules, but also showed features not mentioned before, severe limb pain, and at last resulted in amputation. She was admitted to our hospital after presenting with claudication and mild pain over her right thigh, which worsened when stretching or being touched. Skin examination revealed multiple café-au-lait macules on the neck, arm, axilla, and torso, including the nipples and perineum. Radiographs revealed multiple lytic lesions in the proximal part of the right humerus, distal part of the right clavicle, proximal and distal parts of the right femur, and proximal parts of the right tibia and fibula. Curettage and biopsy were performed on the distal part of the right femur. At the age of 7, the girl was re-admitted to our hospital for a pathological fracture in the middle in the right femur and underwent Intralesional excision, internal fixation, bone grafting, and spica casting. At the age of 10, the girl came to our hospital again for severe pain of the right leg. Amputation from the middle level of the right femur was performed. We present the case of a 5-year-old girl with JCS presenting with not only NOFs and café-au-lait macules, but also showed features not mentioned before, severe limb pain, and at last resulted in amputation. She was admitted to our hospital after presenting with claudication and mild pain over her right thigh, which worsened when stretching or being touched. Skin examination revealed multiple café-au-lait macules on the neck, arm, armpit, and torso, including the nipples and perineum. Radiographs revealed multiple lytic lesions in the proximal part of the right humerus, distal part of the right clavicle, proximal and distal parts of the right femur, and proximal parts of the right tibia and fibula. Curettage and biopsy were performed on the distal part of the right femur. At the age of 7, the girl was re-admitted to our hospital for a pathological fracture in the middle in the right femur and underwent Intralesional excision, internal fixation, bone grafting, and spica casting. At the age of 10, the girl came to our hospital again for severe pain of the right leg. Amputation from the middle level of the right femur was performed.
In our opinion, education on preventing pathological fractures and explaining the consequent serious con
Core Tip: Jaffe-Campanacci syndrome (JCS) is exceedingly rare. In this case, a 10-year-old girl with JCS presented with not only non-ossifying fibromas and café-au-lait macules, but also showed features not mentioned before, severe limb pain, and at last resulted in amputation. This case is a big failure with a tragic ending and has revelatory educational value to all orthopaedic surgeons. We aim to share our failures in treatment and remind other doctors that not every JSC grows with bone development and can be self-healing. We highly recommend education on preventing pathological fractures and explaining the consequent serious consequences to the parents is a matter of prime significance. At the same time, prophylactic treatment (restricted exercise, support, or surgery) is also considerable for JSC.