1/21. Cutaneous and systemic manifestations of mastocytosis.mastocytosis is characterized by an excessive number of apparently normal mast cells in the skin and, occasionally, in other organs. Characteristic skin lesions, called urticaria pigmentosa, are present in most patients, but clinical presentation can vary from a pruritic rash to unexplained collapse and sudden death. These lesions are typically tan to red-brown macules that appear on the trunk and spread symmetrically. patients with mastocytosis often have a long history of chronic and acute symptoms that were unrecognized as mastocytosis. skin lesions may or may not accompany systemic mastocytosis. Systemic disease may involve the gastrointestinal tract, the bone marrow or other organs. Even when the disease is considered as a possibility by the physician, the diagnosis can be difficult because of special technical requirements necessary for biopsy and because of the problems with biochemical testing. drug therapy is initiated to stabilize mast cell membranes, to reduce the severity of the attacks and to block the action of inflammatory mediators. The mainstay of therapy is histamine H1 and H2 blockers and the avoidance of triggering factors.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/21. Clinical stable systemic mastocytosis with interferon alpha-2b therapy.Systemic mastocytosis (SM) with progressive infiltration of various organs by mast cells is a rare disease with a mean survival of 2 years. So far there is no established therapy. We describe a patient with progressive mastocytosis who had a clinical response to interferon alpha-2b 3 x 5 Mio U s.c. three times a week. The response is stable 3 years after initiation of therapy and includes reduction of abdominal lymphadenopathy, ascites, decrease of serum and urinary histamine levels as well as pulmonary reticulonodular markings.- - - - - - - - - - ranking = 0.5keywords = organ (Clic here for more details about this article) |
3/21. nerve growth factor release with mast-cell-derived mediators in a patient with systemic mastocytosis after middle-wave ultraviolet irradiation.BACKGROUND: The symptoms of a 56-year-old man with systemic mastocytosis became worse with exposure to sunlight. We evaluated mast-cell-derived mediators and cytokines before and after exposure to ultraviolet light in the patient. methods: The patient was irradiated with middle-wave ultraviolet light, so-called ultraviolet light B, and the levels of mediators and cytokines were measured serially. The point mutation Asp816Val in c-kit was investigated by analyzing polymerase chain reaction products from the complementary dna of peripheral blood mononuclear cells. RESULTS: Before irradiation, the levels of mast-cell-derived mediators and metabolites were elevated. Among various cytokines measured, including soluble c-kit and stem cell factor, only the level of nerve growth factor was elevated. After irradiation, the nerve growth factor level was further increased along with the levels of mast-cell-derived mediators and metabolites. The point mutation Asp816Val in c-kit was not detected in peripheral blood mononuclear cells. CONCLUSIONS: Middle-wave ultraviolet light may activate mast cells to release nerve growth factor and mediators in systemic mastocytosis.- - - - - - - - - - ranking = 0.088022823975712keywords = nerve (Clic here for more details about this article) |
4/21. mastocytosis cells bearing a c-kit activating point mutation are characterized by hypersensitivity to stem cell factor and increased apoptosis.mastocytosis is characterized by abnormal infiltration of mast cells into various organs. An activating mutation in c-kit, involving an A --> T substitution at nucleotide 2648 has recently been described in some patients with mastocytosis. We describe a 12-year-old girl with this mutation in her bone marrow cells at diagnosis with a myelodysplastic syndrome (MDS) without evidence of mastocytosis, and then in peripheral blood mononuclear cells 1 year later after the emergence of mastocytosis. The role of the c-Kit receptor and its ligand stem cell factor (SCF) in the pathogenesis of the disease was analysed in marrow cell clonogenic assays. We show that the genetic abnormalities in the patient resulted in factor-independent growth and hypersensitivity of primitive progenitors to SCF, with increased production of mast cells. Increased apoptosis and cluster formation, consistent with the myelodysplastic nature of the disorder, accompanied accumulation of abnormal cells with increasing concentrations of SCF.- - - - - - - - - - ranking = 0.5keywords = organ (Clic here for more details about this article) |
5/21. Nodular and bullous cutaneous mastocytosis of the xanthelasmoid type: case report.Severe generalized nodular and bullous mastocytosis of the xanthelasmoid type is described in a 7-month-old boy. Reddish to yellowish-brown xanthelasmoid papules and nodules first developed in the inguinal region a few weeks after birth and then progressively spread to cover nearly the entire body surface. There was severe pruritus and recurrent episodes of blistering. The diagnosis of cutaneous mastocytosis of the xanthelasmoid type with subepidermal bullae was confirmed by skin biopsies showing solid and deeply penetrating infiltrates of metachromatic mast cells under light and electron microscopy. Systemic involvement of other organs, however, was excluded by bone scintigraphy, abdominal ultrasound, bone marrow aspiration and echocardiography. The extensive skin involvement was reflected in highly elevated urinary levels of histamine (263.4 microg L(-1)) and its metabolite N-methylimidazole acetic acid (20.8 mg L(-1)). The patient was systematically well and received only symptomatic treatment. Over a period of 1 year, the condition gradually improved, and the skin lesions began to flatten and regress.- - - - - - - - - - ranking = 0.5keywords = organ (Clic here for more details about this article) |
6/21. A case of 'smouldering' mastocytosis with high mast cell burden, monoclonal myeloid cells, and C-KIT mutation Asp-816-Val.mastocytosis is a term used for a group of disorders characterized by abnormal growth and accumulation of tissue mast cells (MC) in one or more organ systems. In patients with systemic mastocytosis (SM) the clinical course may be indolent or aggressive or even complicated by leukemic progression or an associated clonal hematologic non mast cell lineage disease (AHNMD). However, at first presentation (diagnosis) it may be difficult to define the category of disease and the prognosis. We report on a 48-year-old female patient with SM with urticaria pigmentosa-like skin lesions and mediator-related symptoms. She was found to have splenomegaly, a high infiltration grade (MC) in bone marrow biopsies (>30%), mild anemia, and a high serum tryptase level (>500 ng/ml). In addition, she exhibited discrete histologic signs of myeloproliferation in the 'non-affected' marrow and monoclonal blood cells established by C-KIT 2468A-->T mutation (Asp-816-Val) -analysis and HUMARA assay. Despite these findings, however, the clinical course was stable over years and no AHNMD or organ impairment developed. Because of the 'intermediate' clinical signs and absence of progression to aggressive disease, we proposed the term 'smouldering mastocytosis'.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
7/21. Complex karyotype and absence of mutation in the c-kit receptor in aggressive mastocytosis presenting with pelvic osteolysis, eosinophilia and brain damage.Aggressive mastocytosis is a form of systemic mast cell disease (SMCD) characterized by organ infiltration, bone lesions. eosinophilia and lymphadenopathies. Here we report a patient with unusual clinical features, namely osteolysis without other bone lesions commonly found in SMCD, major eosinophilia and cerebral infarction. The mast cells exhibited a classical immunophenotype (CD2 , CD9 , CD13 , CD25 , CD35 , CD45c and CD117 ). Cytogenetic investigation showed novel complex aberrations, and clonal evolution was correlated with clinical progression. The screening for recurrent point mutations affecting the c-kit gene was negative. Mainly, the ASP816VAL substitution was not detected in our patient. Treatment with steroids and interferon was only temporarily effective.- - - - - - - - - - ranking = 0.5keywords = organ (Clic here for more details about this article) |
8/21. A case of smouldering mastocytosis with peripheral blood eosinophilia and lymphadenopathy.Systemic mastocytosis (SM) is a clonal hematologic disease showing abnormal growth and accumulation of mast cells (MC) in visceral organs with or without skin involvement. The clinical course in SM is variable. In fact, indolent and aggressive variants have been described. In addition, SM patients may acquire an associated hematologic clonal non-MC lineage disease (AHNMD). In some cases, hematologic parameters are indicative of slowly progressing SM although the clinical course remains indolent over years. These cases have been referred to as smouldering SM. We report on a smouldering patient presenting with typical skin lesions, hypercellular marrow with focal MC aggregates, persistent leukocytosis (20,000-30,000/microl) with eosinophilia (5-10%), marked lymphadenopathy, and splenomegaly. The C-KIT mutation Asp-816-Val confirmed the diagnosis of SM. The clinical picture remained stable during an observation period of 10 years without signs of progression to an AHNMD or a high grade MC disease. These data show that some patients with SM can remain in a clinically indolent smouldering state over years even when presenting with marked eosinophilia and lymphadenopathy.- - - - - - - - - - ranking = 0.5keywords = organ (Clic here for more details about this article) |
9/21. Indolent systemic mast cell disease: immunophenotypic characterization of bone marrow mast cells by flow cytometry.BACKGROUND: Mast cell disease has a low prevalence and is difficult to diagnose in the absence of the characteristic skin lesions that usually accompany the condition. Extracutaneous involvement is not easy to assess. There are reports in the recent literature on the use of tryptase as a reliable immunohistochemical marker as well as on the study of the immunophenotype of bone marrow mast cells. The latter is of great help for the diagnosis of systemic involvement as, after the skin, the bone marrow is the organ most commonly affected by the disease. OBJECTIVE: We describe two cases of indolent systemic mast cell disease (SMCD) where flow cytometry was used to identify immunophenotypical characteristics of bone marrow mast cells. Recent advances in the application of this technique prove it can be a good diagnostic tool for assessing systemic involvement of the disease. patients AND methods: Two adult subjects with indolent SMCD had multiple clinical symptoms. Cutaneous lesions were the clue to the diagnosis but, subsequently, in the presence of disturbing symptoms, involvement of other organ systems was confirmed. In both cases, the authors used flow cytometry techniques, as described by Escribano et al. (1998) to define the immunophenotype of bone marrow mast cells. RESULTS: Both patients were diagnosed with indolent SMCD with cutaneous and bone marrow involvement. Also, they presented visible clues to the presumptive bone, cardiovascular and nervous system involvement. Gastrointestinal manifestations were documented in one case. CONCLUSIONS: The use of flow cytometry on bone marrow samples from patients with mastocytosis reveals immunophenotypic differences that can serve to allow classification of these subjects in the category of indolent SMCD even though involvement of another organ system may not be thoroughly confirmed.- - - - - - - - - - ranking = 1.5keywords = organ (Clic here for more details about this article) |
10/21. Generalized mastocytosis and neurological complications in a 71-year-old patient.A woman born in 1917 presented with recurrent urticaria since childhood. In the course of her life she developed urticaria pigmentosa, followed by generalized mastocytosis involving the bones, gastro-intestinal tract, and liver. At the age of 71 years neurological symptoms of cranial nerves necessitated hospital admission. Within a month a concomitant conus medullaris syndrome caused sphincter dysfunction and sacral sensory disturbances. No cause or secondary abnormalities were found on myelography, CT and MRI of the brain and the spinal cord, and in the CSF.- - - - - - - - - - ranking = 0.029340941325237keywords = nerve (Clic here for more details about this article) |
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