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PubMed2003

Osteoclastogenesis in fibrous dysplasia of bone: in situ and in vitro analysis of IL-6 expression.

Fibrous dysplasia of bone (FD) is caused by somatic mutations of the GNAS1 gene, which lead to constitutive activation of adenylyl cyclase and overproduction of cAMP in osteogenic cells. Previous in vitro studies using nonclonal, heterogeneous strains of FD-derived cells suggested that IL-6 might play a critical role in promoting excess osteoclastogenesis in FD. In this study, we investigated IL-6 expression in FD in situ and its relationship to the actual patterns of osteoclastogenesis within the abnormal tissue. We found that osteoclastogenesis is not spatially restricted to bone surfaces in FD but occurs to a large extent ectopicly in the fibrous tissue, where stromal cells diffusely express IL-6 mRNA and exhibit a characteristic cell morphology. We also observed specific expression of IL-6 mRNA in a proportion of osteoclasts, suggesting that an autocrine/paracrine loop may contribute to osteoclastogenesis in vivo in FD, as in some other bone diseases, including Paget's disease. We also generated homogeneous, clonally derived strains of wild-type and GNAS1-mutated stromal cells from the same individual, parent FD lesions. In this way, we could show that mutated stromal cells produce IL-6 at a basal magnitude and rate that are significantly higher than in the cognate wild-type cells. Conversely, wild-type cells respond to db-cAMP with a severalfold increase in magnitude and rate of IL-6 production, whereas mutant strains remain essentially unresponsive. Our data establish a direct link between GNAS1 mutations in stromal cells and IL-6 production but also define the complexity of the role of IL-6 in regulating osteoclastogenesis in FD in vivo. Here, patterns of osteoclastogenesis and bone resorption reflect not only the cell-autonomous effects of GNAS1 mutations in osteogenic cells (including IL-6 production) but also the local and systemic context to which non-osteogenic cells, local proportions of wild-type vs mutated cells, and systemic hormones contribute.

Adult↗
PubMed1999

[Orthopedic management in children with fibrous dysplasia of bone].

The method and results of treatment in 9 children with fibrous dysplasia of bone and 3 children with Albright syndrome are presented. Curettage and filling of the defect with autologous and/or lyophilized grafts failed in all 5 attempted cases. Due to pathological fracture or deformity Rush nailing combined with multilevel osteotomies has been performed within 5 femoral bones and 4 tibial bones. Healing was undisturbed, neither fracture nor deformity recurred. Valgus osteotomy has been done in 2 children with pseudoarthrosis of the femoral neck. In one case osteotomy healed, in another bony union is not completed yet but the neck-shaft angle remained unchanged. In authors' opinion curettage and grafting proved ineffective; Rush nailing rendered good results in both fracture and deformity treatment.

Adolescent↗
PubMed2004

An instrument to measure skeletal burden and predict functional outcome in fibrous dysplasia of bone.

UNLABELLED: An instrument to measure skeletal burden in fibrous dysplasia was developed. Biological and clinical relevance was shown by correlating skeletal burden scores with bone markers, quality of life, and ambulatory status. Childhood scores predict adult ambulatory status, and scores were unaffected when bone markers decreased with bisphosphonate treatment or aging. INTRODUCTION: Fibrous dysplasia (FD) is a skeletal disease with a broad clinical expression. There is no objective method to assess the extent of skeletal involvement or predict outcome. We developed an instrument to measure skeletal burden that correlates with physical function, health-related quality of life (HRQL), and ambulatory status. MATERIALS AND METHODS: Seventy-nine patients with FD underwent bone scintigraphy. The skeletal burden score was derived from a weighted score based on the regional measurement using bone scintigraphy to estimate the amount of FD in anatomical segments. Six readers scored 20 scans twice to determine the inter- and intrareader agreement. To assess biological significance, scores were correlated with bone markers. To assess functional outcome, scores on the SF-36 (adults) or CHQ-PF50 (children) were correlated with skeletal burden scores. In a group of patients who had bone scans as children and adults (n = 6), the ability to predict ambulatory status was tested. Skeletal burden scores were assessed in patients before and after treatment with pamidronate (n = 5). RESULTS: The inter- and intrareader agreement of burden scores were r = 0.96, and 0.98, respectively (p < 0.001 for both). The scores correlated with markers of bone metabolism and HRQL (Spearman rho, 0.54-0.67 p < 0.001 and -0.43, p = 0.001, respectively). The mean score of patients who ambulated unassisted was significantly lower than those requiring assistance (p < 0.001 unassisted versus crutch and/or wheelchair). In unassisted ambulators, younger patients had higher scores, suggesting high childhood scores may predict adulthood impairment. In six patients with childhood and adulthood scans, childhood scores >30 predicted assisted ambulation in adulthood. There was a negative correlation between bone markers and age (Spearman rho, -0.42 to -0.70; p < 0.001), but not age and skeletal burden score. Pamidronate treatment decreased serum alkaline phosphatase but had no effect on the skeletal burden score. CONCLUSIONS: This is a validated and reliable instrument for the measurement of skeletal burden of FD and is able to predict functional outcome.

Adolescent↗
PubMed1986

Fibrous dysplasia of bone and the Weil-Albright syndrome. A study of thirteen cases with special reference to the orthopaedic treatment.

Four patients with monostotic and nine with polyostotic fibrous dysplasia of bone, including one with the classical Weil-Albright syndrome and a male child who may have had this syndrome, are presented. While monostotic forms affect adults and are amenable to curative surgery, polyostotic involvement may become evident in childhood and early infancy, and represent a difficult therapeutic problem. Screening of the skeleton is essential for proper diagnosis and treatment, and should be achieved by total body scan in preference to a complete radiological survey. Biopsy is of particular importance in monostotic cases. The course of polyostotic fibrous dysplasia of bone is not predictable and depends partly upon the unassessable osteogenic potential of the bone, and also on surgery. The Weil-Albright syndrome and its variants are no worse than polyostotic fibrous dysplasia. Orthopaedic treatment deals with pathological fractures and with the prevention and correction of deformities, particularly of coxa vara. Sufficient stability of diaphyseal and metaphyseal lesions of the femur and tibia can usually be provided by intramedullary fixation, which needs to be left, or exchanged, at least until the end of adolescence. Extensive lesions of the proximal femur make aggressive surgery necessary. Pelvic involvement and destruction of the hip joint preclude surgery and require the use of calipers.

Adolescent↗
PubMed1995

[Fibrous dysplasia of bone and osteofibrous dysplasia. Focusing].

This is a review article on fibrous dysplasia of bone. All aspects of this condition including, macroscopic and histologic findings, lesion distribution, clinical, radiological and biological findings as well as evolution and treatment are discussed. A classification of skeletal lesions based on then appearance on plains films and computed tomography is proposed; 3 radiological types are differentiated: non-expanding bone lesions, expanding lesions with a thick periosteal reaction and expanding lesions with a thin periosteal shell. Main features of osteofibrous dysplasia are also discussed.

Bone Neoplasms↗
PubMed2002

Surgical treatment of fibrous dysplasia of bone in McCune-Albright syndrome.

Seven patients affected by McCune-Albright syndrome with polyostotic fibrous dysplasia were operated on either for fracture fixation or for correction of bone deformity. Ten femurs, three tibiae, and one humerus were stabilized by intramedullary titanium nailing with a modified unreamed femoral nail (UFN) and standard unreamed tibial (UTN) and humeral (UHN) nails. The age of the patients at operation ranged from 8 to 30 years, with an average of 17 years, and the length of follow-up ranged from 8 months to 4 years, with an average of 2 years. Before operation, each patient had suffered from a minimum of three fractures to a maximum of 12, with an average of six fractures. The femur was the most affected skeletal segment. Before surgery, two patients were wheelchair-dependent owing to their severe lower limb bone deformities. At follow-up, all the patients were painless and all were able to walk even though one had to wear a bilateral long leg brace and another had to ambulate with the aid of two crutches. No patient had had additional fractures after surgery. The main intra-operative technical problems of this demanding surgical procedure were: a) reaming of a new medullary canal through the fibrodysplastic bone; b) the amount of blood loss in femoral surgery that ranged from 800 to 2,500 ml.

Bone Nails↗
PubMed1998

Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsalpha-mutated skeletal progenitor cells.

We have isolated progenitor cells from the stromal system of the fibrous dysplastic marrow of patients with McCune-Albright Syndrome. Analysis of the Gsalpha gene from individual colonies provided direct evidence for the presence of two different genotypes within single fibrous dysplastic lesions: marrow stromal cells containing two normal Gsalpha alleles, and those containing one normal allele and an allele with an activating mutation. Transplantation of clonal populations of normal cells into the subcutis of immunocompromised mice resulted in normal ossicle formation. In contrast, transplantation of clonal populations of mutant cells always led to the loss of transplanted cells from the transplantation site and no ossicle formation. However, transplantation of a mixture of normal and mutant cells reproduced an abnormal ectopic ossicle recapitulating human fibrous dysplasia and providing an in vivo cellular model of this disease. These results provide experimental evidence for the necessity of both normal and mutant cells in the development of McCune-Albright Syndrome fibrous dysplastic lesions in bone.

Animals↗
PubMed1993

Massive chondroid differentiation in fibrous dysplasia of bone (fibrocartilaginous dysplasia)

Eight cases of fibrocartilaginous dysplasia (fibrous dysplasia with massive cartilaginous differentiation) of bone are reported. The age of the patients ranged from 4 to 26 years, with an average of 17.5 years. The male/female ratio was 1:1. In two patients the lesions occurred in a setting of polyostotic fibrous dysplasia. The anatomic sites most frequently affected were the femur and tibia. The proximal femur was the most common site. Roentgenograms showed well-demarcated lucent lesions of ground-glass opacity. In addition, stippled or ring-like calcifications suggesting cartilaginous elements were seen in six cases. Histologically, hyaline cartilage islands were found in juxtaposition to a fibro-osseous lesion characteristic of fibrous dysplasia. Enchondral ossification was commonly seen, frequently showing columnar arrangement of cartilage cells mimicking a growth plate. The cartilage may show moderate atypism. The important thing is to recognize the benign nature of chondroid elements in fibrous dysplasia. Even if cartilage dominates the histologic picture, it is important to identify the fibro-osseous elements and thereby avoid the misdiagnosis of chondrosarcoma.

Adolescent↗