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At least 19 recordsLinked to original sources
PubMed2002

Bone turnover in children and adolescents with McCune-Albright syndrome treated with pamidronate for bone fibrous dysplasia.

Bone fibrous dysplasia is one of the main features of McCune-Albright syndrome, a rare genetic condition caused by constitutive activating mutations of Gs-protein and defined by skin dysplasia, bone fibrous dysplasia, and autonomous multiple endocrinopathies. Raised serum alkaline phosphatase (ALP) and urinary hydroxyproline levels indicating bone metabolic hyperactivity have been reported in these patients. Encouraging therapeutic results have been achieved, mainly in adults, with pamidronate, an aminobisphosphonate. In this study we investigate newer bone metabolic indices in a cohort of 11 children and adolescents treated with pamidronate. Tenfold increases of bone ALP and urinary pyridinoline cross-links were found and osteocalcin levels were twofold higher compared with reference values. After treatment, significant decreases in bone ALP and cross-links (Wilcoxon test P < 0.06) were found. Bone mineral density (BMD) significantly increased during treatment. There were signs of radiological healing as thickening of the cortical bone was found in some cases.

Adolescent↗
PubMedDate not supplied

[Epileptic seizures as the first sign of fibrous bone dysplasia].

INTRODUCTION: Fibrous bone dysplasia is an unusual disorder of the maturation of bone, seen as hyperostosis of the craniofacial bones and the diaphyses of long bones. Monostotic and polyostotic forms occur, depending on whether one or more bones are affected. The diagnosis is radiological (cranial CT or MR) or on morbid anatomy. The etiopathogenesis is not known. The association of epilepsy and monostotic fibrous bone dysplasia is rare. We present a case of monostotic fibrous bone dysplasia which presented with epileptic seizures. CLINICAL CASE: A 28 year-old-woman had had undiagnosed epilepsy for 12 years. Neurological examination was normal and EEG findings non-specific. Cranial CT and MR suggested fibrous bone dysplasia. Since there was bilateral reduction of the visual fields, due to compression of both optic nerves, the affected bones were removed surgically. Anatomopathological study confirmed the diagnosis of fibrous bone dysplasia. CONCLUSIONS: The association between epilepsy and monostotic fibrous bone dysplasia is unusual. Epilepsy may be an initial symptom in asymptomatic fibrous bone dysplasia. The mechanism for the production of epileptic seizures may not be related to compression phenomena or local ischemia, but be secondary to alteration in the mechanism of cAMP as the second messenger of the cerebral cortex. Patients with fibrous bone dysplasia should undergo neurological examination to rule out local compression with minimal clinical findings.

Adult↗
PubMed1984

[Co-existence of fibrous bone dysplasia and familial intestinal polyposis].

The aetiology of fibrous bone dysplasia is unknown. Combinations with endocrine and non-endocrine diseases are recognised. The co-existence of polyostotic fibrous dysplasia with Peutz-Jeghers syndrome has not been previously described. A patient is now reported who had both these diseases. They have in common a benign proliferative tendency in various organs, but the common denominator is unknown. The basic relationship between the conditions requires further observation and study.

Adult↗
PubMed2000

Fibrous dysplasia of bone.

Fibrous dysplasia of bone is a disease that can involve one or several bones and is characterized by bone deformities, pain and iterative fractures. Some patients can present with endocrine dysfunction (generally precocious puberty) and cutaneous café-au-lait spots. Some complications, such as nerve compression and malignant transformation, are uncommon. Many patients can, however, be asymptomatic. Diagnosis relies on X-ray examination and pathology. Prognosis is assessed by X-rays and markers of bone remodelling. Several breakthroughs in the understanding of the pathophysiology have been made in the past 10 years. It is now recognized that fibrous dysplasia is caused by a somatic activating mutation of the Gs alpha subunit of protein G, resulting in an increased cAMP concentration and thus in abnormalities of osteoblast differentiation, these osteoblasts producing abnormal bone. There is also an increase in interleukin-6-induced osteoclastic bone resorption, which is the rationale for treating these patients with bisphosphonates. In the past 10 years, the bisphosphonate pamidronate has been used by infusion for fibrous dysplasia (two courses per year), with good results with respect to pain and, in about 50% of patients, the refilling of osteolytic lesions.

Adolescent↗
PubMed1997

Long-term effects of intravenous pamidronate in fibrous dysplasia of bone.

Fibrous dysplasia of bone (FD) is a rare disorder characterized by proliferation of fibrous tissue in bone marrow leading to osteolytic lesions. It causes bone pain and fractures. To date the only treatment is orthopedic. Histological and biochemical similarities between FD and Paget's bone disease related to increased osteoclastic resorption led us to propose treatment with the bisphosphonate pamidronate. The aim of the study was to assess the long-term effects of intravenous pamidronate in FD. In this open label phase III study, 20 patients with FD (11 males and 9 females; mean age 31 years) received courses of 180 mg of intravenous pamidronate every 6 months (60 mg/day during 3 days by infusion). The mean duration of follow-up was 39 months (range 18-64). Severity of bone pain, number of painful skeletal sites per patient, X-rays of all involved areas, serum alkaline phosphatase, fasting urinary hydroxyproline, and urinary type I collagen C-telopeptide were assessed every 6 months. The severity of bone pain and the number of painful sites appeared to be significantly reduced. All biochemical markers of bone remodeling were substantially lowered. We observed a radiographic response in nine patients with refilling of osteolytic lesions. A mineralization defect proven by bone biopsy was observed in one case. Four patients sustained bone stress lines, but no fracture occurred. We suggest that intravenous pamidronate alleviates bone pain, reduces the rate of bone turnover assessed by biochemical markers, and improves radiological lesions of FD. Few side effects were observed.

Adolescent↗
PubMed1989

Fibrous dysplasia of bone.

Fibrous dysplasia of bone is a disorder of unknown etiology in which skeletal aberrations constitute the cardinal feature. The condition is often monostotic but may be polyostotic. The disorder may be accompanied by extraskeletal manifestations, such as abnormal cutaneous pigmentation and endocrinopathies, most commonly precocious puberty. Surgical therapy is recommended when bony deformities become substantial or when function is threatened.

Female↗
PubMed2002

Pamidronate treatment in bone fibrous dysplasia in children and adolescents with McCune-Albright syndrome.

Thirteen patients with McCune-Albright syndrome (MAS) and bone fibrous dysplasia (BFD) have been treated for 2-6 years with pamidronate, an aminobisphosphonate which inhibits osteoclastic function. MAS is a rare genetic condition caused by constitutive activating mutations of the Gs protein and manifests with skin dysplasia, bone fibrous dysplasia, and multiple endocrinopathies. Raised serum alkaline phosphatase and urinary hydroxyproline have been reported in these patients, indicating bone metabolic hyperactivity. Encouraging therapeutic results have been achieved with pamidronate, mainly in adults. In our study, treatment reduced bone pain, fracture rate and metabolic indices of bone turnover, in particular significantly decreased bone alkaline phosphatase and cross-links (Wilcoxon test; p <0.06), and increased bone mineral density (DEXA). Signs of healing, such as thickening of the cortical bone, were found in some patients. Three patterns of MRI were found: homogeneous hypointense fibrous tissue, 'dotted' hypointense fibrous tissue, and hyperintense cystic images. Pamidronate treatment can be considered a favorable therapeutic option for patients with MAS.

Adolescent↗
PubMed2000

Pamidronate treatment of bone fibrous dysplasia in nine children with McCune-Albright syndrome.

McCune-Albright syndrome is a rare genetic disorder consisting of skin and bone dysplasia and peripheral endocrinopathies. Little data have been collected regarding bisphosphonate treatment of bone fibrous dysplasia in paediatric patients with this syndrome. The aim of our study was to investigate the therapeutic efficacy of pamidronate in these patients. Nine patients with moderate to severe forms of bone fibrous dysplasia were treated with pamidronate intravenously (0.5-1 mg/kg/daily for 2-3 d) at 0.5-1-y intervals. Patients were treated over a time period of 0.5-3.5 y. During treatment no spontaneous fracture occurred. Bone pain and gait abnormality due to pain disappeared after 2-3 therapeutic cycles. Cranial asymmetry and limb length discrepancy remained unchanged. Elevated serum alkaline phosphatase and urine hydroxyproline values were reduced by the treatment, demonstrating drug activity at the lesional level. The effectiveness of pamidronate was also seen at the non-lesional level through an increase in bone density. Radiographic and scintigraphic evidence of lesion healing was not attained. Pamidronate treatment can ameliorate the course of bone fibrous dysplasia in children and adolescents with McCune-Albright syndrome.

Adolescent↗
PubMed1990

[Uncommon surgical treatment of a tibial fibrous bone dysplasia].

The authors present an original method of treatment in prevention of fracture of the tibial shaft applied in one case of polyostosic fibrous dysplasia of bone. They treated this localization by closed intramedullary reaming and stuffage with cancellous bone grafts.

Adolescent↗
PubMed2001

Gsalpha gene mutations in monostotic fibrous dysplasia of bone and fibrous dysplasia-like low-grade central osteosarcoma.

A series of nine cases with monostotic fibrous dysplasia (FD) and five cases of fibrous dysplasia-like low-grade central osteosarcoma (fd-like lgcOSA) were applied in a mutational analysis. Restriction digestion analysis, single-stranded conformational polymorphism (SSCP) analysis, and repeated sequencing demonstrated a R201H mutation in six cases and a R201C mutation in three cases of patients with monostotic FD. These results demonstrate that the presence of Gsalpha gene mutations is a constant finding in monostotic FD. To our knowledge, this is the first report in the literature investigating Gsalpha gene mutations in lgcOSA, which is one of the most important differential diagnoses of FD because of its low-grade malignant behavior. In four of five cases of fd-like lgcOSA, no mutation has been detected. In one case of this tumor, a R201C mutation could be demonstrated. Because our results demonstrate a low prevalence of Gsalpha gene mutations in this tumor in contrast to monostotic FD, mutational analysis may be an additional helpful parameter in individual cases for the differential diagnosis of FD and fd-like lgcOSA.

Adolescent↗
PubMed1994

Temporal bone fibrous dysplasia and cholesteatoma leading to the development of a parapharyngeal abscess.

Monostotic fibrous dysplasia of the temporal bone is a rare disease entity that may lead to progressive stenosis of the external auditory canal with resultant trapping of skin and the development of cholesteatoma. The cholesteatoma may extend widely into the temporal bone. Once cholesteatoma occupies the petrous apex, erosion out of the temporal bone can occur superiorly into the middle fossa, posteriorly into the posterior fossa, inferiorly into the neck, and infero-medially into the parapharyngeal space. We present a case in which minimal symptoms were present despite a massive temporal bone fibrous dysplasia and cholesteatoma. Eventually, cholesteatoma eroded into the parapharyngeal space, leading to airway compromise. Late presentation occurred because the otic capsule was spared, there was no external skull deformity and there was slow inferior and medial growth that was well tolerated, until the development of a parapharyngeal space abscess.

Abscess↗