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1/195. Imaging of McCune-Albright syndrome using bone single photon emission computed tomography.

    McCune-Albright syndrome is a rare disorder caused by a somatic, constitutively activating mutation in the gene (GNAS1) encoding the subunit of the signal transducing guanine nucleotide binding protein (G protein). The condition is characterized by polyostotic fibrous dysplasia, cafe-au-lait pigmentation and multiple endocrine hyperfunction, most commonly gonadotropin-independent precocious puberty in girls. Our patient, a 16-year-old male, with radiologically confirmed polyostotic fibrous dysplasia in cranium, thoracic and pelvic girdles, spine and extremities was studied using planar 99mTc-hydroxymethyldiphosphonate bone scintigraphy and single photon emission computed tomography. Using bone scintigraphy, an unusually extensive and asymmetric fibrous dysplasia was observed in the cranium, face, ribs, femur, humerus, ulna, tibia and the vertebral column, all on the left side. The whole body scan revealed only a few foci on the right side. Single photon emission computed tomography demonstrated extensive unilateral involvement in the base of the skull, facial bones, maxilla and mandible. All the lesions reached only the midline. These findings formed the basis of further treatment, eg. reconstructive surgery of facial asymmetry. CONCLUSION: McCune-Albright syndrome should be considered in the differential diagnosis when interpreting extensive unilateral predominance in paediatric bone scans.
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keywords = dysplasia
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2/195. Fibrous dysplasia of the temporal bone and maxillofacial region associated with cholesteatoma of the middle ear.

    Fibrous dysplasia of the temporal bone is a rare disease which may lead to progressive stenosis of the external auditory canal and the development of cholesteatoma. We present a case in which minimal symptoms were present despite a massive temporal bone fibrous dysplasia. cholesteatoma resulted most probably secondary to external auditory canal stenosis. Retroauricular fistula developed as a result of destructive effect of cholesteatoma, that influenced previous diagnosis and treatment of this clinically silent disease.
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ranking = 2
keywords = dysplasia
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3/195. McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient.

    Molecular genetics recently uncovered the mystery of the protean picture of McCune-Albright syndrome by identification of the somatic gain of function mutations in the GNAS1 gene. Here we present an adult patient with fibrous dysplasia and an endocrinopathy resulting in unusual giant height. The clinical diagnosis in the patient could be confirmed by molecular investigations in tissues involved in the process of fibrous dysplasia.
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keywords = dysplasia
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4/195. chondrosarcoma in a patient with McCune-Albright syndrome. Report of a case.

    A case of McCune-Albright syndrome with acromegaly and chrondrosarcoma is reported. The potential role of chronic growth hormone overproduction in the occurrence of malignant transformation and the possible value of bisphosphonates in the treatment of bone fibrous dysplasias are discussed.
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ranking = 0.33333333333333
keywords = dysplasia
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5/195. Fibrous dysplasia with intramuscular myxoma (Mazabraud's syndrome). Report of a case and review of the literature.

    About 30 cases of fibrous dysplasia associated with one or more myxomas (Mazabraud's syndrome) have been reported since 1926. We report a new case in a woman with polyostotic fibrous dysplasia and a myxoma in the left femoral muscle. She also had a history of precocious sexual development and cafe au lait spots, two manifestations whose association with polyostotic fibrous dysplasia defines McCune-Albright syndrome.
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ranking = 2.3333333333333
keywords = dysplasia
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6/195. A simple bone cyst containing secretory cells in its lining membrane in a patient with polyostotic fibrous dysplasia.

    An 11-year-old boy, severely affected with polyostotic fibrous dysplasia, showed radiographically rapid expansion of a cystic lesion in his right humerus. At biopsy, there was an extraordinarily thin shell of bone and a cavity encapsulated by a hypertrophic fibrous membrane and filled with yellow serous fluid. Histologically, in addition to typical features of fibrous dysplasia, the fibrous capsule membrane was composed of proliferated mesenchymal cells characteristic of the affected bone. Ultrastructurally, many secretory granules were observed in numerous cytoplasmic vacuoles in the capsular cells as well as in the cultured cells isolated from the evacuated fluid.
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ranking = 2
keywords = dysplasia
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7/195. Fibrous dysplasia of the maxillary: a case report.

    In a 37 year old woman, complaining of right sided rhinorrhea, frontal headache, sneezing and tearing of the eye, fibrous dysplasia was diagnosed based on a radiological "ground glass lesion" of the right maxillo-orbito-ethmoidal area and a hot spot on total body bone scintigraphy. The lesion was resected using a lateral rhinotomy approach with good functional and esthetic result.
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ranking = 1.6666666666667
keywords = dysplasia
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8/195. octreotide effect on hypersecretion of growth hormone in a patient with fibrous dysplasia: a case report.

    We report the case of a 17-year-old adolescent boy with polyostotic fibrous dysplasia and hypersecretion of growth hormone (GH). The fasting serum GH, insulin-like growth factor-I (IGF-I), alkaline phosphatase activity and osteocalcin levels were all elevated. The GH secretion was stimulated by thyrotropin-releasing hormone and was not suppressed by an oral glucose test. magnetic resonance imaging of the sella turcica showed no abnormal findings. The patient was treated with octreotide, 100 micrograms subcutaneous injection three times a day for two weeks to observe the effects of octreotide on growth hormone secretion. GH and IGF-I secretions were suppressed by octreotide therapy, while alkaline phosphatase activity and osteocalcin secretion were partially suppressed. We suggest that the high bone turnover states in this patient may be attributed to both hypersecretion of growth hormone and the polyostotic fibrous dysplasia itself.
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ranking = 2
keywords = dysplasia
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9/195. Cranio-facial fibrous dysplasia in a 38-year-old African woman: a case history.

    A 38-year-old woman sought treatment with cranio-facial dysplasia involving the cranium, maxilla and the mandible. Her chief complaint was a mandibular swelling, which had appeared about 2 years previously, had gradually enlarged, and was associated with spontaneous pain. x-ray film examination revealed a ground-glass opacity with blurred demarcation and a 99 Tc medronate bone scan disclosed an increase in tracer uptake in the cranium, maxilla and mandible. The rest of the skeleton was not affected. Histological examination of the lesions revealed solid proliferation of spindle-shaped cells associated with islands of osteid and bone trabecullae with Chinese letter pattern and numerous multinucleated giant cells consistent with fibrous dysplasia. The continued osteoblastic activity of involved bones, coupled with the medical condition of the patient, restricted the management of the patient to largely supportive and palliative care.
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ranking = 2
keywords = dysplasia
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10/195. Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.

    Albright hereditary osteodystrophy (AHO) is a genetic disorder characterized by short stature, skeletal defects, and obesity. Within AHO kindreds, some affected family members have only the somatic features of AHO [pseudopseudohypoparathyroidism (PPHP)], whereas others have these features in association with resistance to multiple hormones that stimulate adenylyl cyclase within their target tissues [pseudohypoparathyroidism type Ia (PHP Ia)]. Affected members of most AHO kindreds (both those with PPHP and those with PHP Ia) have a partial deficiency of Gs alpha, the alpha-subunit of the G protein that couples receptors to adenylyl cyclase stimulation, and in a number of cases heterozygous loss of function mutations within the Gs alpha gene (GNAS1) have been identified. Using PCR with the attachment of a high melting domain (GC-clamp) and temperature gradient gel electrophoresis, two novel heterozygous frameshift mutations within GNAS1 were found in two AHO kindreds. In one kindred all affected members (both PHP Ia and PPHP) had a heterozygous 2-bp deletion in exon 8, whereas in the second kindred a heterozygous 2-bp deletion in exon 4 was identified in all affected members examined. In both cases the frameshift encoded a premature termination codon several codons downstream of the deletion. In the latter kindred affected members were previously shown to have decreased levels of GNAS1 messenger ribonucleic acid expression. These results further underscore the genetic heterogeneity of AHO and provides further evidence that PHP Ia and PPHP are two clinical presentations of a common genetic defect. Serial measurements of thyroid function in members of kindred 1 indicate that TSH resistance progresses with age and becomes more evident after the first year of life.
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ranking = 3.2319310936667E-6
keywords = defect
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