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At least 973 records · Page 54Linked to original sources
PubMed1978

Vascular pedicle fibular transplantation as treatment for bone tumor.

In 4 cases of bone tumor in which extensive bone defects resulted from removal of the tumorous focus, vascular pedicle free fibular transplantation was performed using microsurgical techniques together with filling the defects with iliac bone. Early bone union was achieved. Atrophy and fracture were avoided. Early postoperative physical therapy was possible. The vessels selected in the recipient site are dependent upon the location of the graft bed, but the anastomosed site of the vessels should be kept outside of the graft bed. It is important to plan the operation so as to avoid motion at the site of callus formation and tension at the anastomosis site.

Adult↗
PubMed1995

[Differential diagnosis of benign bone tumors. Clinical aspects and imaging procedures].

In the assessment of bone tumors and tumor-like lesions the first aim is to clarify potential malignancy and aggressiveness. To rely exclusively on clinical assessment is not sufficient. Imaging techniques are invaluable, the most important still being plain roentgenograms. Radiological assessment according to the Lodwick grading system is useful. MRI has now been established to be superior to further investigations. Ultrasonography has proved to be helpful as a noninvasive and cost-saving screening method, particularly in the presence of non pathologic X-ray findings and persistent complaints. Only non-ossifying fibroma and osteochondroma can be diagnosed reliably with X-ray. For solitary bone cysts, chondromas of small tubular bones and fibrous dysplasia, X-ray diagnosis can be doubtful. Most of the lesions to be considered have to be verified histologically. Specialized experience is necessary for the best selection and timing of diagnostic measurements in individual cases in order to prevent fatal errors.

Adolescent↗
PubMed1982

A variant of fibrous dysplasia (osteofibrous dysplasia).

We are reporting the cases of five patients with a tumor-like lesion that has recently been called osteofibrous dysplasia but has also been called osteogenic fibroma, monostotic cortical fibrous dysplasia, and a variant of fibrous dysplasia. The lesions in our patients developed in childhood and were located in the diaphysis of the tibia, which was bowed anteriorly. The structural stability of the limb was not affected. In four patients the lesion recurred after a biopsy and curettage was performed in childhood. No further surgical procedure was done until the patients reached skeletal maturity. The lesion in one patient was biopsied at the age of twenty-one years. No subsequent treatment was recommended.

Adult↗
PubMed2006

Primary aneurysmal bone cyst of the maxillary sinus in a child: case report and review of the literature.

Our case report describes a primary aneurysmal bone cyst (ABC) of the maxillary sinus in a 12-year-old girl. The young patient presented with progressive diplopia, strabismus, and rapidly growing painless swelling of the left cheek. Imaging studies showed a heterogeneous contrast enhancing mass expanding the left maxillary sinus. The lesion was completely resected endoscopically and histological examination reported it as an ABC. The patient recovered well and is free of recurrence 9 months following surgery. ABC is a benign lesion usually associated with other bone pathology (fibrous dysplasia). It may behave aggressively and invade the orbit; so resection is necessary. Minimally invasive techniques such as endoscopic sinus surgery can be performed successfully in select cases. Long follow up is important because recurrence may occur, in which case further resection is warranted.

Bone Cysts, Aneurysmal↗
PubMed1985

Craniofacial polyostotic fibrous dysplasia.

Three cases of gross craniofacial polyostotic fibrous dysplasia are presented, together with a brief review of the condition, and pertinent points regarding the cases are discussed. As complete excision of the lesion and immediate reconstruction is rarely feasible or possible, and partial excision may result in accelerated growth of the lesion during the patient's active growth phase, resection only to protect, maintain or restore certain important functions (e.g. vision) during this period are advocated, after which close follow-up is mandatory until the lesion becomes quiescent, when further surgical procedures may be undertaken.

Adolescent↗
PubMedDate not supplied

Clinical implications of genetic defects in G proteins: oncogenic mutations in G alpha s as the molecular basis for the McCune-Albright syndrome.

Signal-transducing guanine nucleotide-binding proteins (G proteins) couple extracellular receptor proteins to intracellular effector enzymes and ion channels, and therefore are critical mediators of cellular responses to external stimuli. G proteins are comprised of three subunits (alpha, beta, gamma), each encoded by many different genes. The multiplicity of G protein subunits facilitates great combinatorial variability, which, in part, accounts for the ability of G proteins to interact with many different receptor and effector proteins. Hundreds of G protein-coupled receptors have been identified, and their unique patterns of expression among a restricted number of cell types contributes greatly to the apparent specificity of hormone action. Mutations that either activate or inactivate some of these receptors account for a number of highly specific syndromes, which affect a limited number of target tissues. By contrast, most G proteins are widely expressed in many tissues. Accordingly, mutations in these signaling molecules would be expected to produce a more generalized pattern of hormone dysfunction. Activating mutations in the gene (GNAS1) that encode the alpha subunit of the G protein that stimulates adenylyl cyclase (AC) have been identified in many endocrine neoplasms and diverse tissues of patients with McCune-Albright syndrome. The McCune-Albright syndrome is characterized by autonomous endocrine function, hyperpigmented skin lesions, and fibrous dysplasia of bone--effects which reflect the ability of CAMP to stimulate cell function and proliferation in a wide variety of tissues. The unusual features of the McCune-Albright syndrome are explained by the mosaic distribution of cells bearing the mutant allele, an observation that is most consistent with postzygotic mutation of GNAS1. Experimental analysis of this syndrome has extended our understanding of the clinical and biochemical consequences of dysfunctional G protein action and has provided a bench-to-bedside demonstration of the critical role that G proteins play in transmembrane signal transduction in humans.

Animals↗
PubMed1983

Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease): a genetic cause of presenile dementia.

Progressive presenile dementia with lipomembranous polycystic osteodysplasia was first described by Jarvi and Hakola in an isolated region of Finland. We report the occurrence of this disorder in 4 of 10 siblings in an American family of Czechoslovakian ancestry. Characteristics of the disease include multiple bone cysts with pathologic fractures, progressive dementia with seizures and abnormal EEG, calcification of basal ganglia, and death in the fourth to six decades. Autosomal-recessive inheritance is likely. Electronmicroscopy of fat cells reveals peculiar membrane convolutions. Limited neuropathologic material has shown gliosis and demyelination of white matter, senile plaques, and neurofibrillary tangles. Leukemia and a disorder of intestinal motility may be associated findings. Prevalence of the disorder is unknown, partly because it may be confused with Alzheimer disease and fibrous dysplasia of bone. Radiographs of hands and feet should be part of the evaluation of patients with unexplained presenile dementia.

Adipose Tissue↗
PubMed1990

Facial asymmetry.

A case of monostotic, mandibular fibrous dysplasia has been described in a 22-year-old Amerasian male, who had facial asymmetry of approximately 5 years' duration. Foci of ill-defined sclerotic, pagetoid calcifications were seen on routine film. The CT scans demonstrated bone facial and slight lingual expansion of bone with thinning of the cortex. A three-dimensional, enhanced CT film showed that this lesion was greater than 4 cm. The clinical, radiologic, and microscopic features of fibrous dysplasia have been described.

Adult↗
PubMed1993

MRI in craniofacial fibrous dysplasia.

Five patients with biopsy-proven craniofacial fibrous dysplasia underwent MRI with T1- and T2-weighted sequences and a gadolinium-enhanced T1-weighted spin-echo sequence. Low to intermediate signal intensity was usually seen in the largest part of the lesion on both spin-echo sequences, but smaller regions of hyperintensity on T1- and T2-weighted images and intermediate signal intensity throughout a lesion on T1-weighted images were also seen. All lesions enhanced but only two became iso- or hyperintense compared to fat. High clinical and pathological activity in three cases correlated with high signal intensity on both spin-echo sequences and with strong enhancement in two of the three. The presence of large veins or sinusoids on pathological examination did not correlate with the enhancement pattern.

Adolescent↗
PubMed1994

Plasminogen activators and their inhibitor in osteosarcomas and other bone tumors.

The concentrations of the plasminogen activators u-PA and t-PA as well as the inhibitor PAI-1 were studied immunohistochemically in 35 osteosarcoma specimens compared to 15 Ewing's sarcomas and various other bone lesions. The immunoreactivities of plasminogen activators in osteosarcoma specimens were significantly higher than PAI-1. Biochemically in cell cultures and immunohistochemically in the pathological specimens of the osteosarcomas u-PA was the dominant antigen, all factors showing a generally strong reactivity. Here a relation to the malignancy and invasivity of the tumors could be seen, which was comparable to the results in other tumors. This correlation, however, could not be detected in Ewing's sarcomas. On the whole low immunoreactivity of all enzymes, and of u-PA in particular, could be seen. In comparison in some benign lesions (fibrous dysplasias, aneurysmal bone cysts) the immunohistochemical reactions were distinctly stronger. Dominant antigens did not exist in Ewing's sarcomas. In all mesenchymal tumors studied the immunohistochemical localisation and concentration of the antigens showed a definite correlation with their histological differentiation. Chondroblastic differentiations in different tumors (chondrosarcomas, enchondromas, chondroblastic osteosarcomas) or chondroid parts were always negative for both activators and the inhibitor, especially in their central parts. Here, the biological malignancy was not decisive for the result.

Bone Neoplasms↗
PubMed2006

McCune-Albright syndrome: clinical picture and natural history in children and adolescents.

The classical triad of McCune-Albright syndrome (MAS) consists of polyostotic fibrous dysplasia (FD), skin hyperpigmentation (café-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty. Patients with MAS display mosaicism of activating somatic mutations of the alpha-subunit of Gs. Thus, the clinical presentation of each individual is dependent on the particular distribution of affected cells, causing a broad spectrum of endocrine and non-endocrine manifestations. Typical endocrinopathies are precocious puberty, hyperthyroidism, growth hormone excess, hyperprolactemia, and hypercortisolism. The onset of these manifestations is usually during infancy and childhood. Since specific treatment is required, the prognosis depends on the severity of each individual endocrine manifestation. Additionally, there are non-endocrine manifestations, such as fibrous dysplasia of bone (FD), renal phosphate wasting, and skin hyperpigmentation, i.e. café-au-lait spots. FD, mostly polyostotic, causes fractures needing surgical and orthopedic treatment. Since previous studies have suggested the overall prognosis of patients with McCune-Albright syndrome to be non-fatal, recent data have drawn our attention to non-endocrine affections, including hepatobiliary dysfunction and cardiac disease, which are probably an important risk factor for early death. In summary, the clinical picture in MAS is related to its mosaic nature, i.e. any cell, tissue and organ in any site of the body could be affected to varying degrees, ranging from one or two mild clinical signs with excellent long-term prognosis to a severe life-threatening multiorgan disease.

Adolescent↗
PubMed2006

[A case of polyostotic fibrous dysplasia].

Fibrous dysplasia (FD) is a benign but slowly progressive disorder of bone in which normal cancellous bone is replaced by immature woven bone and fibrous tissue. Fibrous dysplasia is a very uncommon disorder and the total number of cases is not known. It is usually diagnosed in children and young adults. Some patients have only one bone affected (monostotic), whereas other patients have numerous bones affected (polyostotic). Multiple affected bones are often found on one side of the body. The craniofacial involvement causes very difficult therapeutic problem due to localisation and uncontrolled proliferation followed by compression, both resulting in facial asymmetry, pain, cranial nerve deficiencies, alterations in hearing and loss of vision. Treatment of FD depends on the associated symptoms and may include a range of therapies from observation to complete surgical excision. We describe a rare case of polyostotic fibrous dysplasia with craniofacial localisation associated with the involvement of the humerus in a 65-year-old female patient. The first symptoms in the patient were noted 4 years ago. The diagnosis was based on clinical examination, X-ray, CT and histological examination.

Aged↗
PubMedDate not supplied

[Fibrous dysplasia versus osteofibrous dysplasia. Morphological, differential diagnostic and clinical aspects. Experiences from the Westfalen bone tumor registry].

Histologically, this lesion, which was first described by Campanacci, is characterized by an osteofibrous stroma replacing normal bone, showing trabeculae which, unlike in FD, are surrounded by a regular rim of prominent cubic osteoblasts, mature lamellar bone and zonal segmentation with newly formed trabeculae mostly in the cortical region. Radiologic features are eccentric, usually diaphyseally localized osteolytic lesions of the tibia with ground glass appearance. Differential diagnosis includes FD and adamantinoma. Just like OFD, the latter occurs almost exclusively in the tibia, its potential malignancy calling for a more radical therapeutical procedure. Being such a rare lesion, there are no clear guidelines regarding formal pathogenesis and therapy of adamantinoma in combination with osteofibrous stromal reaction. The mean age of the eleven patients with OFD was nine years, which is considerably lower than that of patients with FD (30 years). The lesions were found exclusively in the tibia. Surgical therapy is often followed by a recurrence of the tumor (in two cases in the present material), so it should be avoided, where possible. Thus, surgery should only be performed if complications are imminent, such as marked bone deformation or pseudoarthrosis. Unlike in FD, once bone maturation is completed, surgical treatment of OFD is not normally followed by recurrent disease. Thus, the prognosis of OFD with restricted surgical therapy is more favourable than that of FD, which frequently shows extensive skeletal involvement and recurrent disease even after many years. The more aggressive course of OFD reported by other authors must therefore be explained by too early surgical intervention, i.e. during bone maturation.

Adolescent↗
PubMed1980

Aneurysmal bone cyst of the jaws. Report of a case associated with fibrous dysplasia and review of the literature.

A case of aneurysmal bone cyst (ABC) of the mandible, recurring for the third time and arising in conjunction with fibrous dysplasia, is reported. A comprehensive review of the literature and analysis of over 50 cases of ABC of the jaws yielded the following results: ABCs of the jaws constitute 1.5 % of all non-odontogenic and non-epithelial cysts of the jaws, and 1.9 % of all ABCs of the skeleton. The mandible was affected in 55 % of the cases, the maxilla in 45 % of the patients. Females represented 53 % of the patients and males the remaining 47 %. Seventy-four percent of the ABCs occurred in patients 20 years old and younger. This lesion is regarded as non-neoplastic and as most likely secondary to a pre-existing bone lesion. Our review established that 21 % of the reported cases in the jaws had developed in association with various primary lesions of bone, including fibro-osseous lesions. The primary bone lesion initiates an osseous, arteriovenous fistula which, through its hemodynamic forces, creates a secondary reactive lesion, that is an aneurysmal bone cyst. We also established a recurrence rate of 26 %, based upon previously reported cases as well as our own. The treatment of choice is surgical curettage with cryosurgery and immediate packing with bone chips.

Adolescent↗
PubMed2004

Minireview: GNAS: normal and abnormal functions.

GNAS is a complex imprinted gene that uses multiple promoters to generate several gene products, including the G protein alpha-subunit (G(s)alpha) that couples seven-transmembrane receptors to the cAMP-generating enzyme adenylyl cyclase. Somatic activating G(s)alpha mutations, which alter key residues required for the GTPase turn-off reaction, are present in various endocrine tumors and fibrous dysplasia of bone, and in a more widespread distribution in patients with McCune- Albright syndrome. Heterozygous inactivating G(s)alpha mutations lead to Albright hereditary osteodystrophy. G(s)alpha is imprinted in a tissue-specific manner, being primarily expressed from the maternal allele in renal proximal tubules, thyroid, pituitary, and ovary. Maternally inherited mutations lead to Albright hereditary osteodystrophy (AHO) plus PTH, TSH, and gonadotropin resistance (pseudohypoparathyroidism type 1A), whereas paternally inherited mutations lead to AHO alone. Pseudohypoparathyroidism type 1B, in which patients develop PTH resistance without AHO, is almost always associated with a GNAS imprinting defect in which both alleles have a paternal-specific imprinting pattern on both parental alleles. Familial forms of the disease are associated with a mutation within a closely linked gene that deletes a region that is presumably required for establishing the maternal imprint, and therefore maternal inheritance of the mutation results in the GNAS imprinting defect. Imprinting of one differentially methylated region within GNAS is virtually always lost in pseudohypoparathyroidism type 1B, and this region is probably responsible for tissue-specific G(s)alpha imprinting. Mouse knockout models show that G(s)alpha and the alternative G(s)alpha isoform XLalphas that is expressed from the paternal GNAS allele may have opposite effects on energy metabolism in mice.

Animals↗