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A bizarre manifestation of polyostotic fibrous dysplasia of the facial bones.

A 35-year-old white female is presented for case review. According to H. M. Worth, the classification polyostotic fibrous dysplasia, leontiasis ossea type, would be appropriate. Bone lesions are present in the skull, all facial bones, ribs, pelvic girdle and extremities. The patient's oral/maxillofacial appearance is characterized by massive bony protuberances, hypertelorism and malocclusion, resulting in a grossly distorted leonine mask-like facies. Serum alkaline phosphatase levels are high and, in spite of five facial operations, the patient's disease process continues.

Adult↗

Hypophosphatemic rickets accompanying McCune-Albright syndrome: evidence that a humoral factor causes hypophosphatemia.

McCune-Albright syndrome (MAS) is sometimes complicated by hypophosphatemia. However, it remains unclear whether a humoral factor is associated with the cause of hypophosphatemia. We isolated cells with mutations of the Gsalpha gene from fibrous bone dysplasia tissues of two MAS patients (MAS cells). Severe combined immunodeficiency (SCID) mice were subjected to experiments using from one of these cells patients. Effects of conditioned media (CM) isolated from MAS cells (MAS-CM) on phosphate transport were investigated by using rat renal slices, the renal cell line OK-B, rat intestinal rings and the human intestinal cell line Caco-2. In addition, the effects of MAS-CM on human sodium-dependent phosphate transporter (NPT2) gene promoter activity expression were investigated in the renal cell line OK-B2400 and were compared with the effects of CM isolated from a patient with oncogenic hypophosphatemic osteomalacia (OHO). MAS cells caused significant hypophosphatemia (P < 0.05) and elevated serum alkaline phosphatase activity (P < 0.05) in SCID mice. The MAS-CM significantly inhibited phosphate uptake in everted intestinal rings (P < 0.01), whereas it had no effect on glucose uptake. The MAS-CM had no effect on either phosphate uptake in the kidney or NPT2 gene promoter activity. In contrast, the CM of the OHO patient significantly inhibited phosphate uptake and NPT2 gene promoter activity. These results indicate that the humoral factor derived from fibrous dysplasia cells of the MAS patient is different to that from OHO patients, because the humoral factor from the MAS patient inhibited phosphate transport not in the kidney but in the intestine.

Adolescent↗

Acromegaly and hyperprolactinemia in McCune-Albright syndrome. Evidence of hypothalamic dysfunction.

In a 21-year-old woman with McCune-Albright syndrome, acromegaly and hyperprolactinemia with hypopituitarism developed secondary to a large pituitary tumor. Bromocriptine suppressed the secretion of growth hormone and prolactin, with a reduction in tumor size. However, at the age of 8, she already showed evidence of biochemical acromegaly, with a paradoxical rise of growth hormone levels during two glucose tolerance tests, in the presence of a radiologically normal pituitary fossa. These data support the hypothesis that long-standing hypothalamic stimulation may have been responsible for the later development of a pituitary tumor.

Acromegaly↗

Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.

Mazabraud syndrome is a rare sporadic disorder, mainly characterized by bone fibrous dysplasia and intramuscular myxomas. We report here two new cases of Mazabraud syndrome. One of our patients (Patient 1) also had café-au-lait spots and multinodular goiter suggestive of McCune-Albright syndrome. We review the 37 previously reported cases with Mazabraud syndrome and discuss the 6/37 patients with criteria of Mazabraud and McCune-Albright syndromes. Based on the clinical overlap between the two syndromes, we tested the GNAS1 gene in blood leukocytes and skin fibroblasts of Patient 1, but found no evidence of an activating mutation in the GNAS1 gene.

Abnormalities, Multiple↗

The differential diagnosis of congenital pseudarthrosis of the tibia.

The key to the solution of this problem lies in the differential diagnosis. There are at least four dysplastic lesions of the congentially bowed tibia (with or without cysts) which have quite different behaviour patterns. There are also six different types of true congenital pseudarthrosis which exhibit similar differences in behaviour and response to treatment.

Child↗

Case report 114.

Explore the source record for details and available documents.

Adult↗

Fibrous dysplasia in the light of new diagnostic methods.

Various screening tests provide a detailed representation of fibrous dysplasia: thermography, scintigraphy, computer tomography, scanning electron microscopy, X-ray microanalysis, microradiography and fluorescence microscopy. The stationary nature of clinical and X-ray findings contrasts with the intensive structural changes that occur. The above-mentioned methods are examined with regard to differential diagnosis.

Adolescent↗

Gigantic monostotic fibrous dysplasia of the right humerus. A plea for advice on management.

A case of enormous enlargement and destruction of the right humerus is reported in a middle aged, right-handed, skilled manual worker. The tumour is cosmetically very ugly but right upper limb function is good. Advice from readers on the management of this case is honestly and thankfully requested, particularly information on what might be done should functional deterioration force us to undertake surgery.

Fibrous Dysplasia of Bone↗