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Query: UNIPROT:P15088 (mast cell)
 14,925 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Systemic mastocytosis is a rare disease of mast cell proliferation with cutaneous and multi-visceral involvement. Portal hypertension and ascites are rare manifestations of systemic mastocytosis. We report a case of systemic mastocytosis presenting with extensive nodular cutaneous lesions and hepatic dysfunction, manifested by portal hypertension (ascites, splenomegaly) and derangement of metabolic function (hyperammonemia, hypoalbuminemia, hypocholesterolemia), a picture resembling that of a common cirrhotic form. The correct diagnosis was established only after tissue sections were appropriately stained for mast cells. On the basis of our and other observations we suggest that systemic mastocytosis be added to the list of infiltrative diseases of the liver with potential evolution to portal hypertension and compromise of biochemical functions.
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PMID:[Systemic mastocytosis with portal hypertension and hepatocellular failure]. 143 8

Systemic mastocytosis is a rare disease characterized by mast cell infiltration of organs. Bony pain is present in up to 28% of cases and is frequently chronic and difficult to palliate. Historical attempts at pain control have exclusively involved medical therapy. We report three cases of refractory bone pain in two patients with advanced systemic mast cell disease and associated bony involvement, which were treated with radiotherapy. This report represents some of the first uses of radiotherapy in this disease. Two patients with a primary diagnosis of systemic mastocytosis and bony pain unresponsive to medical therapy were referred for palliative radiotherapy. In the first case, referral was made because of a painful thoracolumbar spine and left shoulder, and in the second, for bilateral lower extremity pain. Patients were irradiated on megavoltage equipment to 30 Gy in 200 and 300 cGy daily fractions. For the first patient, treatment reduced pain scores from 8/10 (severe) to 3-4/10 (moderate) by 1 month posttreatment, with subsequent varying pain until his death 4 months after his second treatment. The second patient achieved pain relief from 10/10 pretreatment to 1-2/10 while on treatment. This proved durable for 9 months until her death due to disease progression. The first patient had a slight exacerbation of his thrombocytopenia during his initial treatment, but otherwise neither patient experienced any acute complications from the radiation treatments. When patients with advanced systemic mastocytosis require large narcotic doses for incomplete bone pain control associated with demonstrable bony involvement, the relatively slight risks of palliative radiation to bone may be favorably weighed against the likelihood of pain relief.
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PMID:Radiotherapy of refractory bone pain due to systemic mast cell disease. 751 91

Mastocytosis is a rare disease characterized by increase in mast cell numbers. The most frequent organ identified as the site of increased numbers of mast cells is the skin. However, uncontrolled growth of mast cells may occur in many other organs and tissues; this disease is called systemic mastocytosis. Nowadays there are four categories of mast cell disease: 1) indolent mastocytosis, 2) mastocytosis with a hematologic disorder, 3) aggressive mastocytosis, and 4) mast cell leukemia. Although the diagnosis of systemic mastocytosis rests finally on identification of mast cells by histopathological examination of the involved tissues, radiological studies may suggest more decisive tests. In this paper the authors discuss usefulness of different methods of radiological imaging in the diagnostics of mastocytosis.
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PMID:[Systemic mastocytosis: significance of contemporary methods of imaging in diagnosis of this disease]. 793 60

Chediak-Higashi syndrome (CHS) is a rare disease occurring in several animal species. Recently, mutant beige rats with CHS were found among DA strain rats in Japan. In the present study, histological examination of beige rats revealed giant granules in the hepatocytes, renal proximal tubules, submandibular ducts, thyroid follicular cells, granulocytes, mast cells, melanocytes, retinal pigment epithelial cells and globular leucocytes. Ultrastructurally, these granules varied from enlarged lysosomes, which were amorphous, granular or filamentous, to giant mast cell granules, crystalloid granules of eosinophils and slightly enlarged neutrophil granules. These findings bore many similarities to those in the beige mouse, which is a well known animal model for CHS, but some differences were apparent. Thus the giant granules of beige rats were larger and more easy to observe than those in beige mice. The study indicated that the beige rat may prove useful as an animal model for CHS.
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PMID:Chediak-Higashi syndrome in rats: light and electron microscopical characterization of abnormal granules in beige rats. 805 71

We examined the association between severity of disease in mastocytosis and skeletal manifestation and bone markers in 16 patients varying in extent of mastocytosis as determined by the urine excretion of methylimidazoleacetic acid. Both osteoporosis and osteosclerosis were found. Bone density in the hip was significantly higher (p < 0.05) in both men and women with an enhanced histamine metabolite excretion. Patients with only moderately increased mast cell mass had low bone mineral density in the hip, osteoporosis and vertebral fractures. The different skeletal disease patterns in mastocytosis might be the effect on osteoblasts and osteoclasts of biologically active substances. Mast cells release a number of vasoactive substances, including histamine which promotes osteoblasts and heparin and prostaglandin D2 which induce bone resorption by activation of osteoclasts. Systemic mastocytosis is a rare disease characterized by multi-organ infiltration by mast cells and with varying skeletal manifestations including osteoporosis. Treatment with bisphosphonates may be beneficial in arresting osteoporosis in this disorder.
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PMID:Bone density, bone markers and bone radiological features in mastocytosis. 867 May 21

IgE multiple myeloma is a rare disease characterized by a high frequency of Bence-Jones proteinuria and plasma cell leukaemia when compared to other isotypes of monoclonal proteins. Only 35 cases have been reported. We describe a 70-year-old woman with a stage III IgE kappa multiple myeloma presenting with a sacral plasmacytoma. Immunological and biochemical studies showed IgE kappa producing tumoral plasma cells. Serum total IgE was high without clinical symptoms suggesting an hyperIgE syndrome or mast cell activation. The patient underwent surgical removal of the sacral tumor and monthly melphalan-prednisone treatment together with intravenous pamidronate infusions. Magnetic Resonance Imaging (MRI) of the dorsolumbar spine revealed an epidural process leading to T6-T9 radiotherapy. Bone densitometry showed a decreased bone mineral content supporting the management of myeloma-related osteoporosis with bisphosphonate infusions. A good partial response with plateau-phase and increase of bone mineral content was achieved after 1 year of treatment and still persists after a 28 months follow-up.
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PMID:IgE multiple myeloma. 1004 34

Mast cell sarcoma is a rare disease. We report an unusual case of this neoplasm arising in the ascending colon of a 32-year-old Japanese woman who presented with abdominal pain. An ulcerating mass in the colon was resected, along with enlarged mesenteric lymph nodes. Two years after surgery, the neoplasm recurred as left cervical lymphadenopathy and an intra-abdominal mass. Despite predonine and radiation therapy, the disease progressed, and the patient died. The tumor cells had abundant fine granular or clear cytoplasm, and oval, lobulated, or indented nuclei. Numerous mature eosinophils were intermingled with the tumor cells. Immunohistologic studies on paraffin sections demonstrated that the majority of the tumor cells were strongly positive for CD45RB, CD68, and mast cell tryptase. They were unreactive, however, with a broad spectrum of antibodies against myelomonocytic and lymphocytic antigens. The mast cell nature of this rare type of tumor can be best identifiable by immunostains for mast cell tryptase.
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PMID:Mast cell sarcoma with tissue eosinophilia arising in the ascending colon. 1043 Feb 80

Systemic mast cell disease is a rare disease of unknown aetiology. Systemic infiltration and proliferation of mast cells in skin, bone marrow, gastrointestinum and lymph nodes is the central pathological feature. This study reports a patient with mastocytosis of the skin (urticaria pigmentosa) for 10 yrs. The patient was referred to hospital for dyspnoea. Chest radiograph showed moderate reticular infiltration of both lungs, computerized tomography revealed multiple lymph nodes of the mediastinum and faint nodular lesions of middle and upper areas of lungs. Transbronchial biopsy demonstrated mast cell infiltration of the lung with formation of mast cell granuloma. According to the current literature, systemic mast cell disease with pulmonary involvement is a very rare entity. After a treatment with interferon alpha-2a over 6 months, the patient's condition and particularly dyspnoea showed improvement in parallel with an amelioration of the lesions as demonstrated by thorax computed tomography.
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PMID:Pulmonary manifestation of systemic mast cell disease. 1075 63

Mastocytosis is a rare disease characterized by a primary pathological increase in mast cells in different tissues, which may present in a variety of clinical patterns. Major advances have been made in recent years in the understanding of the pathogenesis of mastocytosis. This review is aimed at familiarizing dermatologists with these recent findings, and at exploring their possible implications for the diagnosis and treatment of the condition. The heterogeneous clinical presentation of mastocytosis is detailed with respect to the type of skin lesions, age at onset, family history, organ systems involved, associated haematological disorders and prognosis. Recent genetic findings also indicate different pathogenetic forms of mastocytosis, as adult patients and those with associated haematological diseases usually express activating mutations of the stem cell factor receptor c-kit, whereas most cases of childhood-onset and familial mastocytosis seem to lack these mutations. Despite the presence of c-kit mutations, patients with cutaneous lesions generally have a good prognosis, even when there is involvement of other organs. Some patients, particularly those with childhood-onset disease, experience spontaneous remission, mostly by puberty. c-kit mutations do not explain the initial cause of mastocytosis, and their prognostic significance is as yet unclarified, as is the pathogenesis in patients without the mutations. Furthermore, these novel findings have as yet not resulted in a more effective treatment of the cause of the disease, so that counselling, prevention of exposure to mast cell secretory stimuli, and symptomatic treatment remain the mainstays of current patient management.
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PMID:Mastocytosis: recent advances in defining the disease. 1129 25

Mastocytosis is a rare disease characterized by proliferation of mast cells in one or several organs. With conventional cytogenetics about 35% of the patients have chromosomally abnormal clones in bone marrow cells. It has been proposed to include the mast cell disease among the myeloproliferative disorders, in which trisomy for chromosome 8 and 9 can appear in the bone marrow cells. In this study bone marrow cells from eight patients with mastocytosis, two had as well an associated hematological disease, have been examined with fluorescence in situ hybridization (FISH) for enumeration of chromosome no8 and 9. In conventional cytogenetics two patients had clones with del(20) and 47,XY,+14/45, X,-Y, respectively. None of the patients with mastocytosis had clones with trisomy 8 or 9 with either cytogenetics or FISH.
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PMID:Trisomies 8 and 9 not detected with fish in patients with mastocytosis. 1221 82


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