Intracranial arterial dolichoectasia and skull damage in a girl with Jaffe-Campanacci syndrome: a case report

Han, Yong Hwan; Wang, Hangzhou

doi:10.1007/s00381-019-04064-9

Cited by 2 publications

(1 citation statement)

References 15 publications

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“…In all 22 cases have been reported in English literature, most patients were under the age of 18 and males were more than females (13 males, 9 females) ( ). Three previous cases have been reported in East Asia, and, thus, the present case is the fourth[ 9 - 11 ]. It is interesting to find that the bone lesions and café-au-lait macules of this and another case from East Asia were unilateral—especially the abdominal café-au-lait macules which were bounded by the midline on the right and did not cross to the other side (Figure 5 ).…”

Section: Discussionmentioning

confidence: 83%

Jaffe-Campanacci syndrome resulted in amputation: A case report

Jiang,

Liu

2024

World J Clin Cases

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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. CASE SUMMARY 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. CONCLUSION 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.

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Section: Discussionmentioning

confidence: 83%

Jaffe-Campanacci syndrome resulted in amputation: A case report

Jiang,

Liu

2024

World J Clin Cases

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Jaffe-Campanacci syndrome; a case series and review of the literature

Sabry,

Abolenain,

Mostafa

et al. 2024

BMC Musculoskelet Disord

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Background Jaffe-Campanacci syndrome is a rare syndrome, characterized by multiple non-ossifying fibromas (NOF) and cafe-au-lait patches. The name was coined in 1982 by Mirra after Jaffe who first described the case in 1958. Although it’s suggested there is a relation with Neurofibromatosis type 1, there is still no consensus on whether Jaffe-Campanacci syndrome is a subtype or variant of neurofibromatosis-1(NF-1). Case presentation 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. Conclusion 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.

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Intracranial arterial dolichoectasia and skull damage in a girl with Jaffe-Campanacci syndrome: a case report

Cited by 2 publications

References 15 publications

Jaffe-Campanacci syndrome resulted in amputation: A case report

Jaffe-Campanacci syndrome resulted in amputation: A case report

Jaffe-Campanacci syndrome; a case series and review of the literature

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