Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P15088 (mast cell)
 14,925 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of diffuse erythrodermic cutaneous mastocytosis with bone marrow infiltration. An 11-month-old female patient was referred to our hospital for intermittent flushing, fever, intense itching, erythematous rash and bullous lesions. Cutaneous biopsy demonstrated diffuse cutaneous mastocytosis. The bone marrow aspirate revealed mast cell infiltration. Ketotifen treatment was very effective.
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PMID:Diffuse erythrodermic cutaneous mastocytosis with bone marrow infiltration. 835 1

A 24-year-old man had a mediastinal embryonal carcinoma containing yolk sac foci. Combination chemotherapy with cisplatin, bleomycin, etoposide, and vinblastine was given, and the residual mass was then resected. Histology showed only necrotic cells. No other treatment was given. Two years later the patient presented with episodes of flushing and syncopes related to a systemicmastocytosis. Bone marrow examination showed a diffuse infiltration with large, atypical mast cells often with multilobulated nuclei. The patient suffered several episodes of cardiovascular collapse and died during one of these episodes, 8 months after the diagnosis of systemic mastocytosis and 40 months after the diagnosis of mediastinal tumor. Autopsy findings included the absence of mediastinal tumor and a diffuse liver and spleen mast cell infiltration. This was the second case with the similar clinicopathologic picture of two rare diseases being associated. This fact supports the hypothesis of a distinct entity, part of the mediastinal germ cell tumor/hematologic malignancy syndrome. The hypothesis of a cytokine secretion induced by mediastinal germ cell tumor supporting mast cell proliferation may be considered.
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PMID:Systemic mastocytosis following mediastinal germ cell tumor: an association confirmed. 838 Feb 74

Mastocytosis is a rare disorder with serious anaesthetic implications. Anaesthetic management is hazardous since trauma, stress, extremes of temperature and drugs may precipitate intra-operative mast cell degranulation. Release of histamine and other mast cell mediators can lead to profound cardiovascular collapse and even death. We present a case report of a patient with mastocytosis who suffered cardiac arrest during anaesthesia. Anaphylactoid/anaphylactic shock may be delayed and lack supporting signs of histamine release such as cutaneous flushing and bronchospasm.
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PMID:Systemic mastocytosis presenting as profound cardiovascular collapse during anaesthesia. 979 25

Imiglucerase, the recombinantly produced enzyme, is gradually replacing the human placental derived alglucerase in the treatment of gaucher patients. We describe the first case, to the best of our knowledge, of an anaphylactoid reaction to imiglucerase in a patient who tolerated alglucerase. The patient was diagnosed at the age of 2 4/12 years with anemia and hepatosplenomegaly. Over the years he had suffered from marked splenomegaly, thrombocytopenia and recurrent bleeding episodes. At the age of 24 he started treatment with imiglucerase. After 3 months of treatment, immediately after starting an infusion, he experienced flushing, cough, tachycardia, palpitation, chest pain and excessive sweating, which reoccurred on a consecutive administration. Substitution with alglucerase was tolerated well, with only mild rash when he was premedicated with benadryl. Immediate skin tests to alglucerase, imiglucerase and gelatin were negative. IgG against alglucerase was undetectable. The in vitro mast cell degranulation test was positive for alglucerase, imiglucerase heamaccel (a gelatin based plasma substitute, which is a component of imiglucerase). This sensitivity to imiglucerase but not to alglucerase, raises the question of future treatment for this patient, since the production of alglucerase may cease, once imiglucerase production will cover the need for replacement enzyme.
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PMID:Anaphylactoid reaction to imiglucerase, but not to alglucerase, in a type I Gaucher patient. 1038 90

In unusual cases of flushing and anaphylaxis, and after the elimination of the more obvious causes of anaphylaxis or those that may be evaluated by readily available techniques, it is possible to confront a limited and difficult differential diagnosis, which includes idiopathic flushing, anaphylaxis, and neoplastic syndromes associated with mastocytosis and carcinoid tumor. Interestingly, there are rather few features that distinguish one of these possibilities from another. However, the presence of allergic signs and symptoms tend to favor the diagnosis of recurrent idiopathic anaphylaxis; and right-sided valvular heart disease, the presence of excessive 5-HIAA in the urine, and a response to somatostatin favor the diagnosis of carcinoid syndrome. The distinguishing features of mastocytosis include the presence of characteristic skin lesions and diagnostic histopathologic findings on bone marrow biopsy. Counts of absolute mast cell numbers in the skin are less helpful. Following such guidelines, it is often possible to focus on the most likely diagnosis, be it idiopathic anaphylaxis, benign cutaneous flushing, mastocytosis, or carcinoid tumor.
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PMID:Differential diagnosis of the patient with unexplained flushing/anaphylaxis. 1074 48

Varieties of the clinical features of mastocytoses, also called mastocytosis syndrome, are presented. The disease is characterized by excessive accumulation of mast cells, their proliferation and action in the skin and other organs, even in the central nervous system. The mastocytosis syndrome was known as early as the second half of the 19th century under the term urticaria pigmentosa, and was histologically confirmed by the presence in the dermis of metachromatic cells, i.e. Ehrlich mast cells with red-purple cytoplasmic granules visible with Giemsa or toluidine blue stains. The mastocytosis syndrome was then supposed to be a benign chronic dermatosis of childhood with spontaneous regression by adolescence. The clinically pathognomonic symptoms of Darier's sign (urtication of primary skin lesion upon rubbing) and flushing help in the diagnosis of mastocytosis syndrome. In the 1950s, there was a progression in the diagnosis of systemic mastocytosis achieved by scientists and clinicians of various specialties. Upon the discovery of many mast cell released mediators (heparin, histamine, leukotrienes, prostaglandins, proteases, cytokines), receptor functions, relationship to IgE, anaphylatoxin, etc., they were recognized as triggers of various clinical features of the mastocytosis syndrome. In this paper, different forms of cutaneous and systemic mastocytosis are described, with special reference to 'mastocytosis mucocutanea haemorrhagica' observed by one of the authors in a female infant and followed from 6 months till 2.5 years of age. The patient showed practically all the diverse forms of cutaneous mastocytosis: urticaria pigmentosa, papular, nodular, tumorous-like melanoma, vesiculobullous, erythrodermic, telangiectasia eruptiva maculosa perstans. She also suffered from nasal and rectal hemorrhage, conjunctival suggillations, plaque-like infiltrations of the glossal, oropharyngeal and laryngotracheal mucosa, episodes of flushing, and transitory apnea. It is emphasized that the diagnosis of mastocytosis syndrome may be difficult for its mimicking various other diseases. The occurence of mastocytosis syndrome from the neonatal period through adult and old age, and possibilities of symptomatic treatment and prevention of sudden death or fatalities are discussed. Familial occurrence of mastocytosis syndrome and new genetic studies that may prove highly useful for understanding the etiopathogenesis of mastocytosis syndrome are described.
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PMID:Clinical varieties of mastocytoses. 1150 29

Anaphylaxis is an acute fatal or potentially fatal hypersensitivity reaction. Anaphylaxis represent a clinical diagnosis based on history and physical examination and includes symptoms of airway obstruction, generalized skin reactions, particularly flushing, itching, urticaria, angioedema cardiovascular symptoms including hypotension and gastrointestinal symptoms. These symptoms result from the action of mast cell mediators, especially histamine and lipid mediators such as leukotrienes and platelet activating factor on shock tissue. The shock tissue includes blood vessels, mucous glands, smooth muscle, and nerve endings. Anaphylaxis follows the typical immediate hypersensitivity time course, with a reaction beginning within minutes of antigen exposure. A late-phase reaction hours after the initial reaction may occur. Mast cell mediator release can be triggered by both IgE and non--IgE-mediated factors. Therefore, anaphylaxis may be termed anaphylaxis (IgE mediated) or anaphylactoid (non--IgE mediated). The most common IgE-mediated triggers are drugs, typically penicillin or other beta-lactam antibiotics, foods, most commonly nuts, peanuts, fish and shellfish, or hymenoptera stings. Non-IgE-mediated causes include factors causing marked complement activation such as plasma proteins or compounds which act directly on the mast cell membrane, such as vancomycin, quinolone antibiotics, or radiographic contrast media. The pathophysiology of some trigger factors, such as aspirin, remains unclear. Therapy of anaphylaxis revolves around patient education, avoidance, desensitization or pharmacologic pretreatment when agents causing anaphylaxis need to be readministered, and early recognition and prompt therapy of reactions should they occur.
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PMID:Anaphylaxis and Anaphylactoid Reactions: Diagnosis and Management. 1186 83

Patients with systemic mastocytosis present symptoms related to the tissue response to the release of mediators from mast cells and to the local mast cell burden. Such patients often have a history of chronic and acute mediator-related symptoms. Most patients have indolent disease with a good prognosis and a normal life span. Symptoms can include pruritus, flushing, syncope, gastric distress, nausea and vomiting, diarrhea, bone pain and neuropsychiatric symptoms, most of which are controlled by medication. Because there is no current cure for mastocytosis, successful therapeutic interventions rely on the recognition of mediator-related symptoms and their treatment, and established intervention approaches for the relatively uncommon leukemic concomitants. Efforts to link a particular mast cell-derived mediator to some aspect of the symptom complex depend on the known actions of the mediator and the efficacy of target-based interventions.
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PMID:Mastocytosis: mediator-related signs and symptoms. 1191 27

Paclitaxel (Taxol) a taxane antineoplastic agent causing irreversible microtubule aggregation with activity against breast, ovarian, lung, head and neck, bladder, testicular, esophageal, endometrial and other less common tumors was derived from the bark of the Pacific yew (Taxus brevifolia). Phase I trials conducted in the late 1980s were almost halted because of the high frequency of hypersensitivity-like reactions. Respiratory distress (dyspnea and/or bronchospasm), hypotension, and angioedema were the major manifestations, but flushing, urticaria, chest, abdomen, and extremity pains were described also. Reactions occurred on first exposure in the majority of cases raising etiologic questions. The vehicle for paclitaxel Cremophor EL (polyoxyethylated castor oil in 50% ethanol) was strongly suspect as a direct (non-immunoglobulin E dependent) histamine releaser. Premedication regimens and longer infusion times lowered the incidence of reactivity allowing phase II and III trials to progress through the early 1990s. The mechanism(s) underlying paclitaxel hypersensitivity-like reactions is still unknown, and clinical data on probable complement and mast cell activation are lacking. The original clinical trial protocols for paclitaxel required discontinuation of therapy for patients who experienced hypersensitivity-like reactions. Here, we review the current etiologic knowledge of these reactions and describe our clinical approach to allow completion of chemotherapy with this powerful plant-derived agent.
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PMID:Taxol reactions. 1212 9

Mastocytosis comprises several diseases characterized by an abnormal increase in tissue mast cells. Cutaneous mastocytosis (CM) is the most common form of mastocytosis, affects predominantly children, and presents as a mast cell hyperplasia limited to the skin. Systemic mastocytosis (SM) comprises multiple distinct entities in which mast cells in filtrate the skin and/or other organs. The diagnosis of SM is based on the presence of one major criterion and one minor criterion or three minor criteria. Major criteria include the presence of multifocal dense infiltrates of > 15 mast cells in bone marrow and/or other extracutaneous organs. Four minor criteria include the presence of elevated serum alpha-tryptase levels > 20 ng/mL, the expression of CD2 and CD25 surface markers in c-kit-positive mast cells from bone marrow or other organs, the presence of a c-kit mutations on bone marrow and/or other tissues mast cells, and the presence of > 25% abnormal spindle-shaped mast cells in bone marrow and/or tissues. Symptoms of CM include pruritus, flushing urticaria, and dermatographism. Symptoms of SM include cutaneous symptoms in association with syncope, gastric distress, nausea and vomiting, diarrhea, bone pain, and neuropsychiatric symptoms. Activating and nonactivating mutations of c-kit (Asp816Val) are seen in adult SM and in some pediatric CM (Gly839Lys), indicating a clonal dysregulation. There is no cure for mastocytosis but the majority of pediatric CM regress at puberty. Women with mastocytosis are fertile and pregnancy and delivery have been successful by blocking mast cell-mediated symptoms. Symptomatic treatment aimed at reducing the effect of mediators is effective with antihistamines and mast cell-stabilizing agents such as sodium cromolyn. To reduce mast cell burden, interferon alpha, steroids, and purine analogs have been used with varying results. Future directions include tyrosine kinase inhibitors and bone marrow transplant.
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PMID:Mastocytosis: classification, diagnosis, and clinical presentation. 1505 60


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