Cases reported "Bone Diseases"

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1/8. Case report 705. Osteosclerotic sarcoidosis.

    In summary, sarcoidosis is a rare but well-recognized cause of diffuse osteosclerosis. The differential diagnosis of osteosclerosis is limited and includes osteoblastic metastases, sclerotic myeloma, myelofibrosis, and less common infiltrative bone marrow processes such as mastocytosis and sarcoidosis. In all of these entities the sclerosis is found most often in the axial (red marrow) skeleton. In this regard, it is interesting that cases of osseous sarcoid are usually lytic and located in the peripheral skeleton. In patients with osteosclerotic sarcoidosis, the diagnosis may be suggested by a past history of the disease or ancillary signs such as hilar node enlargement and subtle skin involvement. However, the specific diagnosis usually requires bone marrow biopsy with the demonstration of extensive, noncaseating granulomas.
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ranking = 1
keywords = mastocytosis
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2/8. Cholestatic jaundice and bone lesions in an elderly woman.

    BACKGROUND: A 74-year-old Caucasian female presented with jaundice, clay-colored stools, diarrhea, and fatigue of 3 months' duration, accompanied by a weight loss of 6.8 kg. physical examination demonstrated mild hepatomegaly. Initial blood work revealed abnormal liver biochemistries with a cholestatic pattern. An abdominal CT scan showed intrahepatic bile-duct dilatation without masses but with multiple lytic and blastic bone lesions. A sacral bone biopsy established the diagnosis. INVESTIGATIONS: Endoscopic ultrasound, endoscopic retrograde cholangiopancreatography, CT scan, bone biopsy and liver biopsy. diagnosis: Systemic mastocytosis affecting the biliary system resulting in a primary-sclerosing-cholangitis-like picture combined with diffuse blastic and lytic bone lesions. MANAGEMENT: Biliary stenting, histamine 1- and 2-receptor blockers, and chemotherapy (cladribine).
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ranking = 1
keywords = mastocytosis
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3/8. Systemic mastocytosis with skeletal involvement.

    Systemic mastocytosis is a rare disease. The observation of one case characterized by clinical and radiographic bone involvement encouraged the authors to review the literature on the subject. The classification and most recent pathogenetic hypotheses correlated with various radiographic pictures, the different histological aspects, and most frequent differential diagnoses are reported.
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ranking = 5
keywords = mastocytosis
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4/8. Lymphographic patterns in systemic mastocytosis with diffuse bone involvement and hematological signs.

    lymphography revealed the nature of diffuse lymph node involvement in systemic mastocytosis with diffuse bone involvement and hematological signs, similar to that seen in some malignant hematological diseases or in osteomyelosclerosis. The final stages of transformation into acute lymphoblastic leukemia must also be considered.
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ranking = 5
keywords = mastocytosis
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5/8. mastocytosis with skeletal and gastrointestinal involvement in infancy. Two case reports and a review of the literature.

    Two cases of mastocytosis with skeletal involvement in children three and six months old are reported. Bone lesions, either sclerotic or lytic, were encountered in their skeletal surveys. Gastrointestinal lesions in children with mastocytosis are exceedingly rare; in addition to skeletal lesions, one of our patients had a large duodenal ulcer. The diagnosis of mastocytosis was established by skin biopsy in both patients. A review of the literature is also presented.
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ranking = 3
keywords = mastocytosis
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6/8. Systemic mastocytosis associated with generalized osteopenia. Histopathological characterization of the skeletal lesion using undecalcified bone from two patients.

    Although mast cell proliferation in the bone marrow frequently occurs in systemic mastocytosis and is often associated with radiographically detectable bone lesions, the pathologic correlates of the skeletal abnormalities are poorly characterized. We therefore examined three nondecalcified transiliac crest biopsy specimens from two patients with systemic mastocytosis and diffuse osteopenia with vertebral crush fractures. Marrow involvement included unusual mast cell aggregates, as revealed by metachromatic staining, that mimicked granulomas. Histomorphometric analysis or trabecular bone revealed accelerated bone remodeling or "turn over" characterized by osteoidosis, peritrabecular fibrosis, increased numbers of osteoblasts and osteoclasts, and an increase in osteoclastic resorbing surfaces. Our observations and review of the literature suggest that with the recent development of techniques for assessing undecalcified bone biopsy specimens, mastocytosis will probably be shown to be a more common etiology in "osteoporosis" than previously recognized. Metachromatic staining of the biopsy specimen should be a routine procedure in the investigation of any patient who undergoes diagnostic bone biopsy.
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ranking = 7
keywords = mastocytosis
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7/8. Bone scan in mastocytosis: case report.

    A 45-year old man with well-documented systemic mastocytosis showed generalized symmetric increased activity on bone imaging. These scan findings are grossly indistinguishable from those of patients with renal osteodystrophy or secondary hyperparathyroidism. The images of the hands, however, failed to show the changes observed in secondary hyperparathyroidism. The mechanism for this intense activity is thought to be due to aberrant new-bone formation.
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ranking = 5
keywords = mastocytosis
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8/8. Bony lesions in systemic mastocytosis: scintigraphic evaluation.

    Bone, bone marrow and gallium citrate Ga 67 scans were performed on a patient with systemic mastocytosis and bony involvement to evaluate their diagnostic value in such patients. The bone scan revealed increased tracer concentration in the involved areas. These abnormalities were less prominent than those on the roentgenograms, suggesting that only a part of the roentgenographic abnormalities were associated with reactive bone formation. Bone scanning may be less sensitive than roentgenograms to detect the full extent of the bony lesions of systemic mastocytosis. The bone marrow scan revealed a normal central marrow with peripheral marrow expansion. Possibly, the central marrow infiltration by mast cells was sufficient to interfere with its hemopoietic function to a degree that made it necessary to reactivate peripheral marrow tissue. There was no significant 67Ga accumulation in the bony lesions of systemic mastocytosis.
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ranking = 7
keywords = mastocytosis
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