Filter by keywords:



Filtering documents. Please wait...

11/195. A rare case of polyostotic fibrous dysplasia assessed by bone scintigraphy with Tc-99m methylene diphosphonate (MDP).

    A 66-year-old man affected by polyostotic form of fibrous dysplasia in consequence of worsening of lower extremity bone pain aggravated by walking and concomitant increase of serum alkaline phosphatase and osteocalcin, was subjected first to a radionuclide study. Bone scan demonstrated a pathological uptake of the radiotracer in the craniofacial bones, right scapula, left and right posterior ribs, right hemipelvis and lower extremities confirming the diagnosis but establishing especially the extent of bone involvement, greater than expected on the basis of symptoms and X-ray findings, underlying the importance of nuclear medicine imaging in the assessment and follow-up of this rare disease.
- - - - - - - - - -
ranking = 1
keywords = dysplasia
(Clic here for more details about this article)

12/195. A case of atypical McCune-Albright syndrome requiring optic nerve decompression.

    McCune-Albright syndrome (MAS) is a disease of noninheritable, genetic origin defined by the triad of cafe-au-lait pigmentation of the skin, precocious puberty, and polyostotic fibrous dysplasia. This syndrome, which affects young girls primarily, has also been reported with other endocrinopathies, and rarely with acromegaly and hyperprolactinemia. The fibrous dysplasia in MAS is of the polyostotic type and, apart from the characteristic sites such as the proximal aspects of the femur and the pelvis, the craniofacial region is frequently involved. A male patient with MAS presented with juvenile gigantism, precocious puberty, pituitary adenoma-secreting growth hormone and prolactin, hypothalamic pituitary gonadal and thyroid dysfunction, and polyostotic fibrous dysplasia causing optic nerve compression. Visual deterioration and its surgical management are presented.
- - - - - - - - - -
ranking = 0.6
keywords = dysplasia
(Clic here for more details about this article)

13/195. osteosarcoma in a patient with McCune-Albright syndrome and Mazabraud's syndrome.

    Sarcomas infrequently develop in osseous sites of fibrous dysplasia. We report a patient with Mazabraud's syndrome (polyostotic fibrous dysplasia and soft tissue myxomas) complicated by the development of osteogenic sarcoma in a bone affected by fibrous dysplasia. This is the third case of osteosarcoma within the small population of reported patients with Mazabraud's syndrome. There may be an increased incidence of malignant transformation in these individuals' dysplastic bones above that associated with patients suffering from fibrous dysplasia alone.
- - - - - - - - - -
ranking = 0.8
keywords = dysplasia
(Clic here for more details about this article)

14/195. Bilateral proptosis: an unusual presentation of fibrous dysplasia.

    Fibrous dysplasia is a benign, developmental bone disorder of unknown aetiology. With involvement of the facial bones, indications for surgical intervention include cosmetic deformity and/or progressive neurological dysfunction. We present the case of a 36-year-old female with bilateral orbital lesions whose initial presentation was that of progressive proptosis and visual loss. She underwent bilateral pterional craniotomies with gross total resection of her tumours. review of the literature reveals several cases of unilateral orbital fibrous dysplasia. This appears to be the first reported case of distinct, bilateral orbital fibrous dysplasia.
- - - - - - - - - -
ranking = 1.4
keywords = dysplasia
(Clic here for more details about this article)

15/195. McCune-Albright syndrome with fibrous dysplasia of the paranasal sinuses.

    We report a 19-year old female patient with the McCune-Albright syndrome, which is a rare disease consisting of polyostotic fibrous dysplasia (FD) of bone associated with brown pigmented areas of the skin and several endocrine dysfunctions. The patient had FD involving the paranasal sinuses, the middle turbinate and the skull. The endocrine dysfunction of the patient concerns both growth hormone and prolactin hypersecretion. Because the patient had no major symptoms, neither surgical nor medical treatment was applied. Five-year follow-up revealed no complication and enlargement of the lesion.
- - - - - - - - - -
ranking = 1
keywords = dysplasia
(Clic here for more details about this article)

16/195. Familial polyostotic fibrous dysplasia.

    A case of polyostotic fibrous dysplasia of the craniofacial type is presented, together with substantial evidence that this condition had a genetic basis in this patient. A review of the literature indicates that there is absolutely no previous evidence of a genetic basis to this condition. The possibility that the propositus suffered from polyostotic fibrous dysplasia of the Jaffe or the Albright type was excluded.
- - - - - - - - - -
ranking = 1.2
keywords = dysplasia
(Clic here for more details about this article)

17/195. Segmentary fibrous dysplasia manifesting as macrodactyly.

    In this report we describe the unusual manifestation of fibrous dysplasia of rays IV and V of the right hand and of rays III-IV of the left hand in a 12-year-old normal girl. The first symptoms of localised macrodactyly became progressively evident from the age of 8 years on.
- - - - - - - - - -
ranking = 1
keywords = dysplasia
(Clic here for more details about this article)

18/195. Demonstration of McCune-Albright mutations in the liver of children with high gammaGT progressive cholestasis.

    Two patients presented with neonatal cholestasis and acholic stools as first manifestations of McCune-Albright syndrome. Both went through an extensive evaluation including an exploratory laparotomy with peroperative cholangiography which ruled out biliary atresia. One patient presented from the fourth month of life with the classical cafe-au-lait spots following Blaschko's lines, while less classical cafe-au-lait spots were seen in the second patient at the age of 4 years. Bone lesions were seen in one patient at the age of 2.5 years and in the other at the age of 4 years. Despite the severity of presentation, both patients cleared their jaundice within 6 months, but still had mild abnormalities of liver function tests. Both patients showed an activating mutation of codon 201 in the gene encoding the alpha-subunit of the G-protein that stimulates adenylcyclase in liver tissue, suggesting that this metabolic defect could be responsible for the cholestatic syndrome. Similar mutations have been found in other affected tissues in patients with the McCune-Albright syndrome. We propose that McCune-Albright syndrome be included in the list for differential diagnosis of neonatal cholestasis and chronic cholestasis of infancy, as a rare cause.
- - - - - - - - - -
ranking = 9.6957932810002E-7
keywords = defect
(Clic here for more details about this article)

19/195. McCune Albright syndrome and hypophosphatemic rickets.

    A 4 year-old girl had coxa vara, tibial bowing and hyperpigmented macules. The x-ray showed polyostotic fibrous dysplasia and evidence of rickets. Biochemical investigations confirmed hyperphosphaturic hypophosphatemic rickets. The literature has been reviewed.
- - - - - - - - - -
ranking = 0.2
keywords = dysplasia
(Clic here for more details about this article)

20/195. Activating mutation of GS alpha in McCune-Albright syndrome causes skin pigmentation by tyrosinase gene activation on affected melanocytes.

    McCune-Albright syndrome (MAS) is a sporadic disease characterized by cafe-au-lait spots, polyostotic fibrous dysplasia and hyperfunctional endocrinopathies. To elucidate the mechanism of skin pigmentation, melanocytes, keratinocytes and fibroblasts were primary cultured from the cafe-au-lait spot of a MAS patient. Then, mutational analysis and morphologic evaluation were performed. Also, cAMP level and tyrosinase gene expression in cultured cells were determined. Only Gsalpha mutation was found in affected melanocytes and the cAMP level in affected melanocytes was higher than that of normal melanocytes. The mRNA expression of tyrosinase gene was increased in the affected melanocytes. This study suggests that skin pigmentation of MAS results from activating mutation of Gsalpha in melanocytes and the mechanism involves the c-AMP-mediated tyrosinase gene activation.
- - - - - - - - - -
ranking = 0.2
keywords = dysplasia
(Clic here for more details about this article)
<- Previous || Next ->


Leave a message about 'Fibrous Dysplasia, Polyostotic'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.