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Abstract：
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: In our opinion, 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.
METHODS: 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.
CONCLUSIONS: In our opinion, 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.
摘要：
背景：Jaffe-Campanacci综合征（JCS）是一种非常罕见的综合征。JCS的治疗较为保守,大多数作者建议无症状患者不应进行手术。传统概念认为，非骨化纤维瘤（NOFs）的自然过程随着骨骼的发育而生长，溶骨区通过病变周围的骨骨化和病变内的骨化逐渐停止扩张和自愈。但在这种情况下，骨损伤具有潜在的生物学侵袭性，导致严重的肢体畸形和疼痛。
方法：我们介绍了一个患有JCS的5岁女孩的案例，该女孩不仅表现为NOF砂caféau-lait黄斑，但也显示了以前没有提到的特征，严重的肢体疼痛，最后导致截肢.她出现跛行和右大腿轻微疼痛后入院，当拉伸或被触摸时恶化。皮肤检查发现颈部有多处咖啡斑,手臂,腋下,和躯干,包括乳头和会阴.射线照片显示右肱骨近端有多个溶解性病变，右锁骨远端,右股骨的近端和远端，右胫骨和腓骨的近端.在右股骨远端进行刮宫和活检。7岁时，该女孩因右侧股骨中部病理性骨折再次入院，并接受了病灶内切除术，内固定,骨移植,和斯皮卡铸造。10岁时，女孩因右腿剧烈疼痛再次来到我们医院。从右股骨的中层进行截肢。我们介绍了一个患有JCS的5岁女孩的病例，不仅表现出NOF和caféau-lait黄斑，但也显示了以前没有提到的特征，严重的肢体疼痛，最后导致截肢.她出现跛行和右大腿轻微疼痛后入院，当拉伸或被触摸时恶化。皮肤检查发现颈部有多处咖啡斑,手臂,腋窝,和躯干,包括乳头和会阴.射线照片显示右肱骨近端有多个溶解性病变，右锁骨远端,右股骨的近端和远端，右胫骨和腓骨的近端.在右股骨远端进行刮宫和活检。7岁时，该女孩因右侧股骨中部病理性骨折再次入院，并接受了病灶内切除术，内固定,骨移植,和斯皮卡铸造。10岁时，女孩因右腿剧烈疼痛再次来到我们医院。从右股骨的中层进行截肢。
结论：我们认为，预防病理性骨折和向父母解释随之而来的严重后果的教育是至关重要的。同时,预防性治疗(限制运动，支持,或手术)对于JSC来说也是相当大的。
方法：我们介绍了一个患有JCS的5岁女孩的案例，该女孩不仅表现为NOF砂caféau-lait黄斑，但也显示了以前没有提到的特征，严重的肢体疼痛，最后导致截肢.她出现跛行和右大腿轻微疼痛后入院，当拉伸或被触摸时恶化。皮肤检查发现颈部有多处咖啡斑,手臂,腋下,和躯干,包括乳头和会阴.射线照片显示右肱骨近端有多个溶解性病变，右锁骨远端,右股骨的近端和远端，右胫骨和腓骨的近端.在右股骨远端进行刮宫和活检。7岁时，该女孩因右侧股骨中部病理性骨折再次入院，并接受了病灶内切除术，内固定,骨移植,和斯皮卡铸造。10岁时，女孩因右腿剧烈疼痛再次来到我们医院。从右股骨的中层进行截肢。我们介绍了一个患有JCS的5岁女孩的病例，不仅表现出NOF和caféau-lait黄斑，但也显示了以前没有提到的特征，严重的肢体疼痛，最后导致截肢.她出现跛行和右大腿轻微疼痛后入院，当拉伸或被触摸时恶化。皮肤检查发现颈部有多处咖啡斑,手臂,腋窝,和躯干,包括乳头和会阴.射线照片显示右肱骨近端有多个溶解性病变，右锁骨远端,右股骨的近端和远端，右胫骨和腓骨的近端.在右股骨远端进行刮宫和活检。7岁时，该女孩因右侧股骨中部病理性骨折再次入院，并接受了病灶内切除术，内固定,骨移植,和斯皮卡铸造。10岁时，女孩因右腿剧烈疼痛再次来到我们医院。从右股骨的中层进行截肢。
结论：我们认为，预防病理性骨折和向父母解释随之而来的严重后果的教育是至关重要的。同时,预防性治疗(限制运动，支持,或手术)对于JSC来说也是相当大的。
