1/11. Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.We describe a new familial metabolic bone disease characterized by expanding hyperostotic long bones, early onset deafness, premature tooth loss, and episodic hypercalcemia. The condition affects a mother and daughter studied at the age of 36 years and 11 years, respectively. Both individuals lost all hearing in early childhood and suffered premature shedding of teeth. Skeletal pains began just before puberty. Swelling and aching of most middle phalanges in the hands is an especially troublesome manifestation. The mother also had episodes of symptomatic hypercalcemia first documented in late childhood and subsequently during intercurrent illness and postpartum lactation. Radiographs show hyperostosis and/or osteosclerosis predominantly in the skull and appendicular skeleton. Long bones also are expanded considerably, especially the middle phalanges in the fingers. The mother's skeletal abnormalities are more severe. Biochemical parameters of bone turnover, including serum alkaline phosphatase (ALP) activity, are elevated substantially. In the proposita, dynamic histomorphometry of nondecalcified sections of iliac crest revealed rapid skeletal remodeling. In the mother, who had been treated with bisphosphonates, electron microscopy (EM) showed disorganized collagen bundles as well as necrotic and apoptotic bone cells but no osteocytic osteolysis. measles virus gene transcripts were not detected in peripheral blood monocytes. karyotyping was normal, 46,XX. Hyperphosphatasia with bone disease previously has been reported as either a sporadic or autosomal recessive condition. Expansile skeletal hyperphosphatasia (ESH) is probably inherited as an autosomal dominant trait with a high degree of penetrance.- - - - - - - - - - ranking = 1keywords = bone disease (Clic here for more details about this article) |
2/11. Concomitant sickle cell disease and skeletal fluorosis.Skeletal fluorosis typically manifests as a diffuse increase in bone density, whereas avascular necrosis of the epiphyses and diaphyseal marrow are the main skeletal manifestations of sickle cell disease. The diagnostic and therapeutic challenges raised when both disorders are present are illustrated by two cases in Senegalese patients from an area characterized by high fluoride contents in the water and soil. Both had SS sickle cell disease. Skeletal fluorosis was diagnosed during evaluation for avascular necrosis in one patient and in the wake of septic arthritis in the other. Femoral head necrosis is difficult to identify in a patient with skeletal fluorosis. The bone lesions due to sickle cell disease and those due to fluorosis can mimic other bone diseases, most notably metastases. The combination of sickle cell disease and fluorosis results in significant medullary canal narrowing due to cortical thickening and to accumulation of necrotic bone. When performing hip replacement surgery, careful reaming of the medullary canal may reduce the risk of iatrogenic femoral fracture and inappropriate stem placement.- - - - - - - - - - ranking = 0.16666666666667keywords = bone disease (Clic here for more details about this article) |
3/11. Psychoneuroendocrine disturbances in a patient with a rare granulomatous disease.erdheim-chester disease (ECD) and Langerhans' cell histiocytosis (LCH) are rare granulomatosis-like diseases of unknown etiology which are characterized by lipoidgranulomatous infiltrates in various organs. Contrary to LCH, endocrine and cerebral lesions were infrequently observed in ECD. We report on a patient with the clinical diagnosis of ECD displaying endocrine and cerebral manifestations and skeletal, pulmonary and soft tissue involvement. Disturbance of the endocrine system was revealed by enlargement of the pituitary, partial deficiency of growth hormone (GH), hyperprolactinemia and testosterone deficiency. Cerebral involvement included sinus vein thrombosis, pathologic acoustic evoked potentials, persistence of gadolinium enhancement after magnetic resonance imaging and hypomania. These findings emphasize the importance to assess endocrine and cerebral function in patients with rare granulomatous diseases like ECD and multiorgan involvement.- - - - - - - - - - ranking = 0.0062048298765099keywords = endocrine (Clic here for more details about this article) |
4/11. A novel AIRE mutation in an APECED patient with candidiasis, adrenal failure, hepatitis, diabetes mellitus and osteosclerosis.Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder, which is characterized by an immune-mediated destruction of endocrine tissues, chronic candidiasis and ectodermal disorders. In contrast to many other autoimmune diseases, APECED is associated with mutations of a single gene, designated autoimmune regulator (AIRE). We describe an APECED patient with severe deformities of the tibia with radiological signs of metaphyseal dysplasia in addition to candidiasis, hepatitis, diabetes mellitus and adrenal failure. In this patient, we identified a novel AIRE mutation in association with the C322fsX372 mutation in exon 8, which is frequently detected in Caucasian patients. The frame shift mutation G263fsX377 in exon 6 results in a protein lacking both PHD zinc-finger domains similar to the R257 X mutation. This novel mutation was not found in 50 German controls.- - - - - - - - - - ranking = 0.00077560373456374keywords = endocrine (Clic here for more details about this article) |
5/11. Endocrine function in sclerosteosis.Sclerosteosis is a rare autosomal recessive condition which is characterized by excessive skeletal overgrowth, distortion of the facies, cranial nerve abnormalities and raised intracranial pressure. syndactyly and digital malformation are associated features. Radiological examination reveals thickened sclerotic bone maximally involving the skull, including the pituitary fossa. Sclerosis and hyperostosis are present throughout the skeleton. Biochemical and endocrine tests were carred out on 3 patients with sclerosteosis in an attempt to detect any dysfunction of calcium regulation of the pituitary. Results revealed no abnormality of basal parathyroid or calcitonin secretion. Histological examination revealed quantitatively increased bone resorption in comparison with normal subjects, although the pattern resembled osteosclerosis. Regulation of growth hormone, adrenocorticotrophin, gonadotrophin and thyrotrophin function were intact. We conclude that pituitary function and calcium 'homeostasis' are normal in this disorder.- - - - - - - - - - ranking = 0.00077560373456374keywords = endocrine (Clic here for more details about this article) |
6/11. Multiple osteosclerotic masses of the jaw.Florid osseous dysplasia is a peculiar reactive or developmental bone disease that is known to appear only in the jaws. It has an inexplicable decided predilection for occurrence in middle-aged, black women. Extent of the disease may vary from a few isolated periapical lesions to diffuse involvement of the mandibular and maxillary alveolar processes. Radiographically, it is characterized by multiquadrant, globular, radiolucent-radiopaque lesions. Histopathologically, it is a benign fibro-osseous lesion that must be differentiated from other benign fibro-osseous lesions such as fibrous dysplasia, ossifying fibroma, Paget's disease, and sclerosing osteomyelitis on the basis of combined clinical, radiographic, and histological features. Correctly identifying this disease is important because it requires no treatment unless a secondary osteomyelitis develops. Sequestrae and osteomyelitis are complications arising when teeth are removed and removable dental prostheses are supported by diseased bone.- - - - - - - - - - ranking = 0.16666666666667keywords = bone disease (Clic here for more details about this article) |
7/11. Cranial sclerosis with striated bone disease (osteopathia striata).This report concerns another case of striped bone disease (Osteopathia striata) together with sclerosis of the base of the skull. The mode of inheritance of this rare genetic disorder is still unknown. The clinical characteristics of 20 cases reported in the international literature are summarized and compared with our own findings.- - - - - - - - - - ranking = 0.83333333333333keywords = bone disease (Clic here for more details about this article) |
8/11. plasma cell dyscrasia with polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes: the poems syndrome. Report on two cases and a review of the literature.Two patients with plasma cell dyscrasias, manifested by osteosclerotic bone lesions and small amounts of M protein, and a complicating multi-system disorder are described. Their features of severe sensory-motor polyneuropathy, organomegaly, endocrine dysfunction, anasarca, elevated CSF protein, and skin hyperpigmentation are similar to a clinical syndrome reported primarily in Japanese men. Two previously unrecognized findings--hyperprolactinemia and an unusual radiographic abnormality of fluffy, spiculated bony proliferation--may facilitate recognition of the syndrome. The relationship of these various manifestations to the plasma cell dyscrasia is unknown, but a number of possibilities are discussed.- - - - - - - - - - ranking = 0.00077560373456374keywords = endocrine (Clic here for more details about this article) |
9/11. Subacute fluorosis: a consequence of abuse of an organofluoride anesthetic.A young woman presented with a novel multisystem disease: painful periostitis, osteosclerosis, hypertension, and renal dysfunction. The similarity of some of this clinical picture to fluoride intoxication led to the discovery of massively elevated fluoride levels in serum, urine, and bone. Although initially an enigma, the source of fluoride was later found to be the illicit use of an anesthetic agent, methoxyflurane. This agents is one of a class of organofluorides that, by virtue of biotransformation, is a known cause of inorganic fluoride exposure. Though the drug is potentially nephrotoxic as generally used, exposure to it is transient and has not previously led to discernible bone disease.- - - - - - - - - - ranking = 0.16666666666667keywords = bone disease (Clic here for more details about this article) |
10/11. Osteosclerotic metaphyseal dysplasia.A new sclerosing bone disease in two Japanese siblings born to first-degree cousin parents is reported. Clinically the disease is characterized by early developmental delay, hypotonia and later spastic paraplegia. The unique radiographic changes consist of peripheral osteosclerosis affecting predominantly metaphyses of the long bones and to a lesser degree ends of the ribs and clavicles, iliac crests, acetabulae, ischio-pubic synchondroses and vertebrae. The epiphyses are sclerotic in early life. The round bones, short tubular bones and the skull are little affected. The shafts of the tubular bones are osteopenic. Increased serum alkaline phosphatase was the only laboratory abnormality detected. We suggest the name "osteosclerotic metaphyseal dysplasia" for this disorder.- - - - - - - - - - ranking = 0.16666666666667keywords = bone disease (Clic here for more details about this article) |
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