Hypophosphataemic osteomalacia in fibrous dysplasia

We describe three patients with fibrous dysplasia of bone in whom there was evidence of hypophosphataemic osteomalacia or rickets. Two of the patients had polyostotic fibrous dysplasia and osteomalacia. The third was a child with fibrous dysplasia of the facial and cranial bones and rickets. In all cases the manifestations of osteomalacia or rickets were controlled with large doses of vitamin D. In the child the rickets and hypophosphataemia ceased when most of the bone affected by fibrous dysplasia was surgically resected. Previously reported cases of the association between fibrous dysplasia and hypophosphataemic osteomalacia are reviewed. We suggest that these cases are analogous to the syndrome of 'tumour rickets' where hypophosphataemia appears to be due to the presence of a mesenchymal tumour and regresses when the tumour is removed.     

Spontaneous malignant transformation of fibrous dysplasia

OBJECTIVE: To evaluate the clinical and radiological findings in diagnosing spontaneous malignant transformation of fibrous dysplasia. METHODS: Fifteen cases of sarcomatous transformation proved by operation and pathological examinations were found in a group of 356 patients with fibrous dysplasia, and their radiological manifestations were retrospectively studied. The 15 cases included 8 osteosarcomas, 5 fibrosarcomas and 2 chondrosarcomas. All the 15 patients were known to have long-standing fibrous dysplasia, but no radiation therapy was ever received. Eleven patients had polyostotic fibrous dysplasia and 4 had monostotic type. RESULTS: Malignant transformation most frequently occurs in the cystic expansive lesion of the long tubular bone. Pains, swelling and late appearance of a bony mass are the main clinical manifestations. The early radiological features of sarcomatous transformation in fibrous dysplasia are moth-eaten or cystic areas of osteolysis located in the involved bone. The cortical destruction and gradual formation of a soft tissue mass that contains tumor-bone are highly suspicious of osteosarcomatous transformation, while ring-like and spotty calcification in the tumor matrix is indicative of chondrosarcoma. Fibrosarcoma usually shows simple osteolytic destruction. CONCLUSIONS: According to the clinical radiological findings, patients of sarcomatous transformation can be detected in the early stage. These radiological findings may be used as a clue for differentiating various kinds of sarcomatous transformation.     

Radionuclide angiography--brain and bone imaging in craniofacial fibrous dysplasia (CFD): case report

Craniofacial fibrous dysplasia (CFD) may show arterial displacement or increased uptake during arterial, capillary, venous, and blood-pool phases of radionuclide angiography. Extensive single or multiple areas of uptake are present on brain and bone images. These findings are probably due to the highly vascular bone often found in CFD. The distribution of the areas of abnormal uptake, along with pertinent clinical history and skull radiographs, usually alllows conditions to be excluded.     

Aggressive fibrous dysplasia of the maxillary sinus

Fibrous dysplasia is usually a slowly progressive, benign disease that develops over several years and presents with deformity or mild symptomatology. Five of 34 patients (ages 4-21 years), who were subsequently diagnosed histologically as having fibrous dysplasia of the maxillary sinus, rapidly developed soft tissue masses of the malar region over a period of less than 4 months with accompanying pain (2 patients) and nasal obstruction and exophthalmos (2 patients). Each was clinically suspected of having a sarcoma; two had been thought to have an "osteofibrosarcoma" on initial biopsy at outside hospitals. After resection, all lesions developed regrowth. At histopathologic examination, both initial and recurrent masses proved to be typical fibrous dysplasia with spicules of woven bone in cellular, sometimes vascular, fibrous tissue. No malignant degeneration was found. On conventional radiography, aggressive fibrous dysplasia produced opacification and expansion of the maxillary sinus and apparent disruption of its wall with an associated soft tissue mass. Computed tomography (CT) demonstrated voluminous heterogeneous masses with "ground glass appearance", calcifications, areas of enhancement, low attenuation, cystic areas, and a thinned, sometimes interrupted, maxillary wall. Despite the aggressive clinical course for both initial and recurrent lesions, the CT findings of a "ground glass" mass with calcifications surrounded by a maxillary sinus wall, even if incomplete, can suggest the diagnosis of aggressive fibrous dysplasia.     

Treatment of fibrous dysplasia involving the proximal femur

Bone marrow transplant-associated thrombotic microangiopathy (BMT-TM), usually associated with thrombocytopenia, microangiopathic haemolytic anaemia (MAHA) and renal insufficiency, has been reported to occur approximately 5-6 months after BMT. We report a case of relapsed malignant lymphoma complicated by BMT-TM of hyperacute onset, which has never been described in the literature. Our patient, a 52-year-old male, developed MAHA with gross haematuria, thrombocytopenia, lactate dehydrogenase elevation and renal insufficiency 2 days after autologous PBSC transplantation following high-dose chemotherapy. Supportive treatment, ie glucocorticoid, fresh frozen plasma and haemodiafiltration were given, and thereafter the BMT-TM gradually improved. In heavily pretreated patients, caution should be exercised for possible occurrence of the BMT-TM of hyperacute onset.     

Polyostotic fibrous dysplasia. A clinical case report

The authors present a severe case of polyostotic fibrous dysplasia in which there was considerable involvement of cranial bone and facial skeleton. Numerous lesions were present at the level of the long bones of limbs. Endocrine dysfunction was also present in the form of a hypophyseal adenoma secreting prolactin and ACTH. The concomitance of acromegaly or gigantism and/or hyperprolactinemia and polyostotic fibrous dysplasia has only been reported to date in a few cases in literature. The authors describe the appearance of the subject, correlating clinical photographs with X-rays. They report the clinical excursus of the patient characterised by the gradual increase in deformities which seriously jeopardized the patient's relational life, in particular the appearance of a bulk on the forehead and checks and the deformation of the symphyseal portion of the mandible with presence of interdental diastemata. The patient also complained diplopia, difficulty in chewing owing to the mobilisation of teeth, and increasing bone pain probably due to nerve compression by exuberant bone. It was not possible to perform corrective surgery owing to the patient's overall poor health conditions. In fact, dilatative cardiomyopathy which continued to worsen in spite of numerous forms of medical treatment resulted in the patient's death owing to cardiac decompensation. Even the attempt to treat the patient's primary endocrine dysfunction using bromocryptine and subsequently octreotide failed to produce positive results owing to the onset of collateral effects which led to the early suspension of treatment.     

Long-term intravenous tocolytic therapy

Eighteen women required continuous intravenous tocolytic therapy with either ritodrine hydrochloride or magnesium sulfate for greater than 48 hours because of repetitively recurrent preterm labor; these were compared with a similar group of women successfully treated in less than 48 hours in a retrospective, case-controlled study. The mean gestational age at the time of diagnosis was 31 weeks for both groups. Tocolytic selection was similar in both groups, although the dosage per hour was significantly greater with long-term therapy. The mean interval from initiation of therapy until delivery was 41 days in the study group, compared with 39 days among controls (not statistically significant). The mean gestational age at delivery was 36 weeks in both groups. There were no significant difference in various measures of fetal outcome between groups. These data demonstrate that long-term intravenous tocolytic therapy can be a safe and effective means of prolonging gestation in those women who fail to respond to conventional treatment.     

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.     

Long-term survival in typical thanatophoric dysplasia type 1

Mycorrhizae have been shown to increase growth and yield of plants. They have been identified with both nutrient mobilization and nutrient cycling. Arbuscular (or endo-) mycorrhizae play a significant role in agriculture and most natural ecosystems, whereas ectomycorrhizae have a great potential in forestry and wasteland regeneration. The use of mycorrhizal fungi would reduce dependence on chemical fertilizers besides minimizing environmental pollution. The present review addresses the progress that there has been in the area of the ecto- and endomycorrhizae. It also examines the potential of field applications of mycorrhizal biotechnology in agriculture and forestry.     

Analysis of survival following treatment of tumour-induced hypercalcaemia with intravenous pamidronate (APD)

The outcome of 114 patients with tumour-induced hypercalcaemia (TIH) treated between January 1992 and June 1993 with intravenous pamidronate (APD) was retrospectively analysed. The median overall survival was 55 days (range 3 days to > 21 months): 86 days if systemic anti-cancer therapy was available and only 35 days if not (P < 0.001). Survival was also significantly better for those who became normocalcaemic post APD (53 days vs 19 days, P < 0.001). There was no survival difference with respect to patient sex, age, tumour type, treatment of bone metastases with radiotherapy, initial calcium level, initial dose of APD or time from tumour diagnosis to first TIH. In those patients in whom systemic anti-cancer therapy is available, treatment with APD improves survival, but in all other patients the primary aim of treatment should be symptom control. This study confirms the dismal prognosis of TIH.     

Computed tomography of Paget disease of the skull versus fibrous dysplasia

OBJECTIVE: Radiologists are often challenged to review CT examinations of the skull without pertinent clinical information or plain radiographs. Skull lesions of fibrous dysplasia (FD) may often be confused with Paget disease (PD). The purpose of this article is to evaluate radiographic similarities and to find the signs that can differentiate PD from FD of the skull on head CT and to describe the CT imaging features of PD and FD. DESIGN AND PATIENTS: CT scans of the skull in eight cases of PD, 18 cases of FD (13 cases of skull and facial bones, five cases of only facial bones) and 10 normals were studied retrospectively. RESULTS: Ten features were found to be similar in PD and FD and 10 other features were found to be dissimilar. The frequency of the 10 differentiating features was evaluated to determine their reliability in distinguishing one disorder from the other. The differentiating features in order of significance include: (1) "groundglass" appearance, (2) symmetry, (3) involvement of the paranasal sinuses, (4) thickness of the cranial cortices, (5) involvement of the sphenoid bone, (6) orbital involvement, (7) nasal cavity involvement, (8) presence of a soft tissue mass, (9) maxillary involvement, and (10) the presence of cyst-like changes. CONCLUSION: These 10 signs improve the radiologist's skill in differentiating FD and PD.     

Primary hyperparathyroidism-associated polyostotic fibrous dysplasia: absence of McCune-Albright syndrome mutations

Several cases of sporadic primary hyperparathyroidism in association with fibrous dysplasia of the bone have been reported in the English literature. Since fibrous dysplasia is a major feature and hyperparathyroidism is occasionally found in the McCune-Albright syndrome, we hypothesized that such cases may represent a variant of this syndrome. A 28-year-old male had primary hyperparathyroidism associated with polyostotic fibrous dysplasia but no other manifestations of the McCune-Albright syndrome. Genomic DNA samples from his parathyroid adenoma, dysplastic bone sample, and peripheral leukocytes were analyzed for the presence of activating mutations of the stimulating G protein alpha subunit gene (gsp). Allele-specific hybridization revealed the presence of normal sequences only, coding for arginine and glutamine at codons 201 (exon 8) and 227 (exon 9), respectively. Further, single strand conformational analysis of a 224 base pair fragment of exon 8 revealed no conformational aberrations. Furthermore, the sequences of a 164 base pair fragment of exon 8 and a 170 base pair fragment of exon 9 were normal. The results strongly suggest that gsp mutation is absent in affected and normal tissues in this patient and that the association of hyperparathyroidism and fibrous dysplasia may not represent a variant of the McCune-Albright syndrome.