Scoliosis and spine involvement in fibrous dysplasia of bone

Few studies focused on the prevalence of scoliosis and involvement of the spine in patients with fibrous dysplasia (FD) of bone. We examined for FD involvement of the spine and scoliosis in 56 patients affected by FD of bone. Fifty patients were part of a cohort reported in a multicentric study on FD promoted by European Pediatric Orthopedic Society (EPOS) in 1999, and six were new patients. There were 30 females and 26 males (mean age 12.5 years; range 1–42 years). Twenty-three had monostotic FD, 9 polyostotic FD, and 24 McCune-Albright Syndrome (MAS). Scoliosis was observed in 11 cases of polyostotic FD and MAS (33.3%). In seven of the patients with scoliosis (63.3%) spine was involved by FD lesional tissue. FD lesions involved the thoracic or lumbar spine in all patients but one, where cervical spine was also affected. A correlation between scoliosis and either spinal (p < 0.01) or pelvic lesions (p < 0.05) and pelvic obliquity (p < 0.01) was observed. Three of the 11 patients showed familiarity for scoliosis but in 2 of them spine was involved by FD. Scoliosis and spine involvement were never detected in monostotic FD. This study indicates that in FD patients with polyostotic disease (1) the prevalences of FD involvement of the spine and scoliosis are high enough to include spine in the clinico-radiographic survey of these patients, and (2) the involvement of the spine and pelvis by FD lesions and pelvic obliquity are important determinants in the occurrence of scoliosis.     

Symptomatic polyostotic fibrous dysplasia of the thoracic spine

We present a case of polyostotic fibrous dysplasia with limited involvement in thoracic spine and adjacent ribs. The patient underwent posterior instrumentation performed between Th3 and Th11 with pedicle screw system, followed by costotransversectomy of 7th and 8th costovertebral junctions and posterior spinal fusion for costal lesions. In the same operation, curettage was done for the lesion in Th6 vertebra and bone grafting and anterior total corpectomy were performed for Th7 and Th8 vertebrae. 360 degrees spinal fusion was done using titanium mesh as strut graft and autogenous rib grafts. Fibrous dysplasia occurs rarely in axial bones than peripheral bones. The cystic lesions in segments of the whole spine should be evaluated for the possibility of fibrous dysplasia with detailed radiographical examination and biopsy.     

C2/C3 pathologic fractures from polyostotic fibrous dysplasia of the cervical spine treated with percutaneous vertebroplasty

We will discuss a potential role of percutaneous vertebroplasty (PVP) in the management of patients with severe fibrous dysplasia of the spine with multiple cervical lesions and C2–C3 pathologic fractures that may not be a good surgical candidate. Polyostotic fibrous dysplasia involvement of the cervical spine is rare. Review of literature indicates only few reported cases of surgical management with one case of mortality indicating increased risks associated with surgical intervention. While PVP is commonly used for the treatment of osteoporotic thoracolumbar vertebral compression fractures, its role in vertebral stabilization for fibrous dysplasia has not been reported. A 35-year-old man with McCune–Albright syndrome and severe polyostotic fibrous dysplasia of C2 and C3 vertebrae presented with severe neck pain, radiculopathy, quadriparesis and myelopathy. The lesion had pathologic fractures, and there was an os odontoideum with cervical cord atrophy at the C1 level. After discussing need for aggressive surgical management and potential complications, we offered PVP due to surgical risks involved. PVP was performed with a posterolateral transpedicular approach without complication. The patient had remarkable improvement in clinical relief of neck pain and improvement of myelopathic symptoms at 1-year follow-up. We present a case that illustrates a potential use of PVP in the management of a patient with symptomatic spinal fibrous dysplasia with associated pathologic fractures who was poor surgical candidate.

     

The correlation of specific orthopaedic features of polyostotic fibrous dysplasia with functional outcome scores in children

BACKGROUND: Polyostotic fibrous dysplasia has a wide clinical spectrum, with substantial variation between patients in terms of orthopaedic manifestations, including the number of fractures, the degree of deformity of the limbs, and the presence of scoliosis. Data from bone scans, skeletal surveys, and records were correlated with the Pediatric Outcomes Data Collection Instrument scales to examine whether any specific facet of orthopaedic involvement could be related to functional abilities. METHODS: All patients who were sixteen years of age or younger and who were part of an ongoing natural history study of polyostotic fibrous dysplasia (including McCune-Albright syndrome) were sent an age-appropriate Pediatric Outcomes Data Collection Instrument outcomes tool. The medical records and radiographs of the patients who returned forms were reviewed. Radiographic measurements of scoliosis, the femoral neck-shaft angle, and limb deformities were then performed. The extent of skeletal involvement with polyostotic fibrous dysplasia (disease burden) was assessed on bone scans with use of a validated tool. A chart review was performed to determine the fracture rate, the use of bisphosphonates, and the endocrine status. These measurements were correlated with the Pediatric Outcomes Data Collection Instrument scores. RESULTS: The outcomes tool was sent to twenty-seven patients and the completed instrument was returned by twenty patients, for a response rate of 74%. The parent-child form was filled out for twelve patients and the parent-adolescent form was filled out for eight patients. The mean standardized Pediatric Outcomes Data Collection Instrument scores for all twenty patients were lowest for sports (62; range, 14 to 100) and happiness (72; range, 25 to 100). Adolescents and parents disagreed with regard to sports (with adolescent scores being higher than parental scores) and pain (with parental scores being higher than adolescent scores). However, the overall global scores correlated well between the parents and the adolescents (r = 0.78, p = 0.03). The femoral neck-shaft angle correlated strongly with the Pediatric Outcomes Data Collection Instrument score for sports (r = 0.46, p = 0.03) but not for transfers. The bone scan scores for the lower extremity disease burden correlated with both the transfer scale (r = 0.76, p = 0.03) and the sports scale (r = 0.77, p = 0.02). Deformity of the limbs, the presence of scoliosis, the prevalence of endocrine dysfunction, and the number of fractures did not correlate with the Pediatric Outcomes Data Collection Instrument scores. CONCLUSIONS: In patients with polyostotic fibrous dysplasia, the loss of the normal femoral neck-shaft angle and the disease burden in the lower extremities appear to have the greatest effect on functional activity as measured with the Pediatric Outcomes Data Collection Instrument tool.     

Surgical reconstruction of fibrous dysplasia of bone in long-term follow-up

PURPOSE: To examine how different operative measures influence the surgical outcome in patients with fibrous dysplasia of bone. METHODS: 118 dysplastic fibrous lesions of bone were surgically treated and reviewed in 70 patients between 1983 to 1993 (eleven years) with a median follow-up of six and a half years. Surgery consisted of intralesional curettage in 93 and marginal en bloc resection in 25 lesions. Bony defects were reconstructed with autogenous iliac crest graft in 55 lesions, with autogenous fibula graft in 9, with homologous bone chips in 28, and 5 times with a homologous fibula graft from the bone bank. In 33 lesions the entire defect was filled with polymethylmethacrylate. Osteosynthesis was performed in 41 patients. RESULTS: Recurrences requiring surgical revision were observed in 26 of 74 primary lesions (= 35% overall recurrence rate) at a mean 123.6 weeks postoperatively. The most frequent primary and recurrence location was the proximal femur (85% revision rate). 69% of all recurrences occurred under the age of 20. After intralesional curettage the reoperation rate was 32% and after marginal resection 8%. After reconstruction with autogenous iliac crest graft recurrence rate was 36%, after autogenous fibula graft 55%, after homologous bone chips 18%, after polymethylmethacrylate 9% and allograft fibula reconstruction showed no recurrences. A combined stable osteosynthesis bridging the fibrous osseous defect significantly reduced the revision rate to 3% (p = 0.01). CONCLUSION: Intralesional curettage and reconstruction with autogenous iliac crest graft in fibrous dysplasia of bone leads to a high recurrence rate. Reconstruction with cortical grafts or bone chips from the bone bank, if necessary in combination with a durable osteosynthesis in mechanically demanding locations, or solely bone cement in mechanically less demanding areas, reduces the revision rate in patients with monoostotic and polyostotic fibrous dysplasia.     

Pretherapeutic diagnosis of fibrous dysplasia

A safe differentiation of fibrodysplastic lesions from "real" bone tumours is of high importance because a fibrous dysplasia often requires no further therapy. While polyostotic involvement of fibrous dysplasia can be safely diagnosed before therapy, in monostotic disease differential diagnostic problems may occur. In the present investigation only in 6 of 14 mon- and biostotic lesions caused by fibrous dysplasia a correct diagnosis could be established by radiologic methods. However, in all cases of fibrous dysplasia malignancy could be excluded by radiology and the false diagnosis had no therapeutic consequences.     

Fibrous dysplasia of the spine with sarcomatous transformation: a case report and review of the literature

Summary A fibrosarcoma is reported in the spine of a 53-year-old man with polyostotic fibrous dysplasia. There was no history of endocrine disturbances and no previous irradiation. Malignant transformation in fibrous dysplasia is rare. A review of the literature reveals 101 cases of malignant degeneration occurring in fibrous dysplasia. We believe that this is the first report of sarcomatous change arising in an area of fibrous dysplasia in the spine.     

Fibrous dysplasia with locally aggressive malignant change

Summary This is a case report of a tumour which showed all the histological features of fibrous dysplasia without any features of high-grade malignancy, yet had become locally aggressive, causing cortical erosion and extension into soft tissue. Fibrous dysplasia is a well-recognised enitity that encompasses monostotic lesions, polyostotic involvement and Albright's syndrome [6, 8]. Lesions in bone usually spare the epiphysis before puberty, but often involve the epiphyseal area after maturity and can progress during adult life [3]. Unless cystic [6, 10] or malignant change [7, 10, 11] occurs, fibrous dysplasia usually remains contained within bone.     

Activating mutations of Gs protein in monostotic fibrous lesions of bone

Activating mutations of the alpha chain of the heterotrimeric signal transducer Gs disrupt the inherent guanosine triphosphatase activity of the alpha chain, stimulate adenylyl cyclase, and can result in independent cell proliferation. Such mutations are identified in a number of endocrine disorders, including McCune-Albright syndrome, which is a triad of endocrinopathy, café au lait spots, and polyostotic fibrous dysplasia. The mutation in this syndrome is a missense point mutation in exon 8 that results in the substitution of either histidine or cysteine for arginine at position 201. Monostotic fibrous dysplasia is a nonhereditary isolated bone lesion. Other isolated bone lesions that share some cytologic and clinical similarities to fibrous dysplasia are osteofibrous dysplasia and aggressive fibromatosis involving bone. Four cases of monostotic fibrous dysplasia, four cases of aggressive fibromatosis involving bone, and one case of osteofibrous dysplasia were studied to determine if a mutation was present in exon 8 of the alpha chain of Gs. A missense mutation was present in all of the fibrous dysplasias. The other fibrous lesions and uninvolved tissue did not contain a mutation. Somatic activating mutations of Gs differentiate fibrous dysplasia from the other lesions and may be responsible for the loss of control of local proliferation and growth factor expression.     

Die atlantoaxiale Instabilität als seltene Komplikation der fibrösen Dysplasie

Fibrous dysplasia, in either monostotic or poliostotic form rarely involves the cervical spine. Most of these lesions remain asymptomatic and are incidental radiographic findings. A symptomatic case of polyostotic fibrous dysplasia involving the first, second and third cervical vertebra with potentially serious consequences is presented. A 53-year old woman who had shown cervical myelopathy for about 3 month was diagnosed as having cervical dysplasia on the basis of plain x-ray and CT scanning. In addition, atlanto-axial instability causing clinical symptoms was detected. A dorsal stabilisation was performed using the DCS System.     

Balloon kyphoplasty for vertebral compression fractures secondary to polyostotic fibrous dysplasia. Case report

This 25-year-old woman with polyostotic fibrous dysplasia (McCune-Albright syndrome) suffered low-back pain after a minor traumatic injury. Neurological examination demonstrated normal status. Magnetic resonance imaging revealed cystic lesions in multiple thoracic and lumbar vertebral bodies, consistent with polyostotic fibrous dysplasia. Severe vertebral compression fractures (VCFs) were seen at T-8 and L-2. Balloon kyphoplasty was performed to treat the T-8 and L-2 VCFs and also prophylactically at T-9 and T-10 to forestall impending fractures at those levels. The patient tolerated the procedures very well and reported complete resolution of back pain. Balloon kyphoplasty may be an option in patients with painful VCFs caused by fibrous dysplasia.     

Thoracic and lumbar spine in diastrophic dysplasia: a clinical and magnetic resonance imaging analysis

STUDY DESIGN: Cross-sectional study to evaluate the thoracic and lumbar spine in patients with diastrophic dysplasia (DD). OBJECTIVES: To find the causative factors behind the spinal deformities and restricted mobility of the spine. SUMMARY OF BACKGROUND DATA: Typical findings in this skeletal dysplasia are short-limbed stature, multiple joint contractures, early degeneration of joints, and spinal deformities such as cervical kyphosis, scoliosis, and exaggerated lumbar lordosis. The pathogenic mechanism of scoliosis is unknown. METHODS: A physical examination was performed on 88 patients (55 females, 33 males) with an average age of 31 years (range, 3-56). Magnetic resonance (MR) images from T2 to S1 and radiographs were obtained. Degree of scoliosis was measured according to Cobb from standing radiographs.The anatomy of the medulla and the size of the spinal canal were assessed. The transverse dural tube area was measured from L2 to S1. Disc space, degeneration, and protrusions were evaluated. Vertebral abnormalities, if any, facet joint degeneration and the state of the spinal muscles were also assessed. RESULTS: Physical examination showed diminished mobility of the spine. Scoliosis was noted in 70 patients with an average of 42 degrees (range, 11-188 degrees ). The mean transverse area of the dural tube ranged from 94 mm(2) at L2-L3 to 57 mm(2) at L5-S1. The area was smaller at all levels compared with reference values (P < 0.001). One patient had severe thoracic and lumbar spinal stenosis. Five patients had compression of neural structures in the lumbar spinal canal in MR images, but had no clinical symptoms. All patients exhibited narrowed disc heights and a decrease in the signal intensity of discs on T2-weighted images. The prevalence of disc protrusions was low; three patients had a prolapse in the lumbar spine. Two patients displayed vertebral anomalies. All patients also had muscular atrophy and degenerative-like facet joint hypertrophy. The severity of these changes increased with age. CONCLUSIONS: Abnormal disc structure and rapid degeneration explain the diminished decreased mobility of the spine and may be a causative factor in the development of scoliosis. Muscular atrophy may be caused by reduced physical activity and rigid spinal deformities. The spinal canal is narrowed, but symptomatic lumbar spinal stenosis is uncommon.     

异体皮质骨支撑植骨修复股骨头颈部肿瘤性骨缺损

股骨近端的良性病变常削弱股骨轻的支撑结构。我院１９８９年６月￣１９９５年６月用异体皮质骨支撑植骨 修复股骨头颈部肿瘤性骨肌损２６例。其中骨纤维异常增殖症１２例, 骨韧带样纤维瘤５例,骨巨细胞瘤２例,成软骨细胞瘤１例。根据肿瘤的病理诊断,病灶分别采取单纯刮除１２例;刮除结合冷冻８例;在治疗６例多发或病灶范围广泛的骨纤维异常增殖症过程中,病灶未作处理。２６例中,１４例同时行内固定手术。 所有病例术后即     

Oral alendronate treatment for polyostotic fibrous dysplasia: a case report

Recently, intravenous therapy with pamidronate has been reported to be effective for treating fibrous dysplasia. However, very little is known about the efficacy of oral alendronate for fibrous dysplasia. We describe a patient with polyostotic fibrous dysplasia, who had complained of persistent pain for more than 20 years, that was treated with oral alendronate alone. Follow-up examinations were at intervals of 3 months for 2 years. The pain, radiographic findings, and bone turnover, which was monitored using various markers, improved. No adverse side effect was noted. Oral alendronate is suggested to be a useful option in the treatment of polyostotic fibrous dysplasia.     

Osteogenic sarcoma and soft tissue myxoma in a patient with fibrous dysplasia and hemoglobins JBaltimore and S

A 41-year-old man with recognized polyostotic fibrous dysplasia since late childhood developed fibroblastic osteogenic sarcoma in the left tibia. Four months after the initial diagnosis, an intramuscular myxoma was discovered in the left thigh. Twenty years previously he had been found to be heterozygous for hemoglobins JBaltimore and S. Malignant transformation in fibrous dysplasia is unusual and may be associated in some individuals with prior irradiation. Soft tissue myxomas associated with fibrous dysplasia are even rarer. To the best of the authors' knowledge the occurrence of both of these lesions in a patient with fibrous dysplasia has been reported only once before. Patients with both fibrous dysplasia and myxomas may be at greater risk for malignant transformation than are individuals with only one of these lesions. There is no well-recognized association between hemoglobinopathies and either fibrous dysplasia or bone tumors. It is therefore probable that the rare constellation of findings is in this patient a stochastic event.     

The patterns of spinal deformity in Duchenne muscular dystrophy.

In a clinical and roentgenographic study of spinal deformities in sixty-two patients in the later stages of Duchenne muscular dystrophy, many patients had marked scoliosis and kyphosis, while others with hyperextended spines had comparatively little scoliosis. Based on an analysis of the data, it is suggested that the development of spinal deformity in patients with Duchenne muscular dystrophy may progress in two ways: one leading to the early establishment of a position of extension and a maximum intrinsic stability with minor deformity, and the other leading to progressive deformity. It was concluded that management for these patients should be designed to guide the early straight spine toward the late extended pattern by attempting to prevent kyphosis and pelvic obliquity.     

Polyostotic fibrous dysplasia of the cervical spine: case report and review of the literature.

BACKGROUND CONTEXT: Multiple lytic lesions of the spine usually represent metastatic or infectious disease processes. PURPOSE: To describe an extremely rare presentation of an uncommon disease process. STUDY DESIGN/SETTING: Case report/university hospital. METHODS: We describe the management of a patient who presented with a pathological fracture of C3 and multiple lytic lesions of the cervical spine. RESULTS: After reconstructive surgery, the final pathological diagnosis was fibrous dysplasia. CONCLUSION: Fibrous dysplasia is rarely seen in the cervical spine and may mimic other pathological processes. The surgical and medical management of spinal fibrous dysplasia is described.