Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016382 (flushing)
 6,387 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of bullous mastocytosis in a 30-month-old girl, who developed disseminated pruritic urticarial and bullous lesions on the trunk accompanied by episodes of vomiting and generalized flushing. Her problems began at the age of 6 months. Her stool was repeatedly positive for occult blood. Histamine and 5-hydroxytryptamine were measured in the urine and serum; urine 5-hydroxytryptamine levels were elevated. In addition, trypsin and chymotrypsin levels were raised in the blister fluid. Metachromatic staining of the mast cells in a skin biopsy specimen confirmed the diagnosis. A combination of oral disodium cromoglycate and ketotifen produced a dramatic improvement of the cutaneous and gastrointestinal features.
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PMID:[Bullous mastocytosis in a child]. 917 60

Episodic vasomotor instability with flushing is an uncommon presentation that is suggestive of an endocrine etiology. This report is the case of a 42-year-old woman who presented to the ED 5 times in a 2-week period for recurrent, self-limited episodes of light-headedness associated with tachycardia, hypertension, and flushing. The patient's diagnosis eluded detection in both the outpatient and the inpatient settings for several months. The clinical diagnosis was ultimately confirmed by biochemical test samples obtained in the ED during a subsequent symptomatic event. The differential diagnosis of this patient's presentation includes pheochromocytoma, carcinoid syndrome, medullary thyroid carcinoma, systemic mastocytosis, and other endocrine and toxicologic diseases. ED management of the patient with transient yet significant vasomotor changes includes a workup for syncope, initiation of focused biochemical investigations, referral to the appropriate consultant, and consideration for admission.
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PMID:Recurrent near-syncope with flushing. 922 98

A 35-year-old female presented in 1989 with hepatosplenomegaly, but no conclusive diagnosis was established. From 1992, she experienced transient episodes of facial flushing and palpitations. Osteosclerotic change was detected radiologically. Colonoscopy revealed massive polypoid lesions. Mast cells were demonstrated in bone marrow smear and imprinted preparations of colon biopsy specimens by toluidine blue staining. Plasma concentrations of histamine and soluble c-kit were elevated. She was successfully treated with interferon-alpha and prednisolone, resulting in the disappearance of histamine-related attacks and a gradual decrease in tumor size. However, the remission was interferon dose dependent. This case was considered as systemic mastocytosis with massive polypoid colon lesions and showed the importance of maintenance therapy with interferon-alpha.
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PMID:Systemic mastocytosis with extensive polypoid lesions in the intestines; successful treatment with interferon-alpha. 965 7

We report a 20-year-old female patient with telangiectasia macularis eruptiva perstans characterised by telangiectatic macular lesions and episodic flushing, two lesions of which were successfully treated by laser. Two clinically different forms of cutaneous mastocytosis have both been previously described as telangiectasia macularis eruptiva perstans, and we now propose that this term be restricted to cutaneous mastocytosis characterised by the typical telangiectatic macules.
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PMID:Telangiectasia macularis eruptiva perstans: a case report and review of the literature. 966 9

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

Mast cells (MC) are multipotent hemopoietic effector cells producing diverse mediators like histamine, heparin, or tissue type plasminogen activator. We report a 75-year-old male patient with myelodysplastic syndrome (MDS) of recent onset (3 months' history) associated with a massive leukemic spread of immature tryptase+ MC (tentative term: myelomastocytic leukemia). The patient presented with pancytopenia, bleeding, hypofibrinogenemia, and an increased cellular tryptase level. Moreover, an excessive elevation of plasmin-antiplasmin complexes (9,200 ng/ml; normal range: 10-150), an elevated D-dimer, and an increase in thrombin-antithrombin III complexes were found. The identity of the circulating MC was confirmed by immunophenotyping (CD117/c-kit+, CD123/IL-3R alpha-, CD11b/C3biR-), biochemical analysis (cellular ratio [ng:ng] of tryptase to histamine >1), and electron microscopy. Bone marrow (bm) examination showed trilineage dysplasia (17% blasts), 30% diffusely scattered MC, and a complex karyotype. No dense, compact MC infiltrates (mastocytosis) were detectable in bm sections. Despite hyperfibrinolysis and mediator syndrome (flushing, headache), the patient received remission induction polychemotherapy (DAV) followed by two cycles of consolidation with intermediate dose ARA-C (2 x 1 g/m2/day on days 1, 3, and 5). He entered complete remission after the first chemotherapy cycle without evidence of recurring MDS. Moreover, in response to chemotherapy, the hyperfibrinolysis and mediator syndrome resolved, and the circulating c-kit+ MC disappeared. We suggest consideration of polychemotherapy as a therapeutic option in patients with high-risk MDS of recent onset, even in the case of MC lineage involvement.
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PMID:Hyperfibrinolysis in a case of myelodysplastic syndrome with leukemic spread of mast cells. 1033 14

A 74-year-old woman had an 8-year history of spells consisting of facial flushing and swelling, itching and erythema of the hands, rhinorrhoea and gastrointestinal complaints. The ultimate diagnosis was systemic mastocytosis without urticaria pigmentosa. In the clinical decision process the treating physicians used clinical axioms to try to establish a diagnosis, but these axioms were sometimes used inappropriately. In particular, spells accompanied by flushing inappropriately elicited a possible diagnosis of phenochromocytoma. Generalised mastocytosis can occur in the absence of urticaria pigmentosa and is probably an underestimated cause of spell-like complaints.
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PMID:[Clinical thinking and decision-making in practice. A patient with episodes of flushing]. 1034 42

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

Mastocytosis has a highly variable clinical expression, and systemic mastocytosis is occasionally associated with a myeloproliferative or a myelodysplastic disorder. These patients often present without skin involvement and have a very poor prognosis. We report a 72-year-old man with this condition who had spells of flushing and dyspnea, myelofibrosis, and high serum and urine histamine levels.
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PMID:[Systemic mastocytosis]. 1106 53

This is a retrospective review of the case files and clinical photographs of 173 children diagnosed with cutaneous mastocytosis by a dermatologist in an exclusively paediatric practice. Of the 98 males and 75 females, 51% had mastocytomas, 47% had urticaria pigmentosa and three patients had diffuse cutaneous mastocytosis. Of these cases, 87% first appeared prior to or at 6 months of age. Flushing occurred in 26% of urticaria pigmentosa cases, 29% of mastocytomas and 100% of diffuse cutaneous mastocytosis. Blistering was noted in 23% of urticaria pigmentosa, 31% of mastocytomas and 100% of diffuse cases. Neither symptom was noted in 59% of urticaria pigmentosa and 49% of mastocytomas. There were three cases with a positive family history. The finding of a palmar mastocytoma has only once been previously reported. Illustrated descriptions of our cases are provided.
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PMID:Presentation of cutaneous mastocytosis in 173 children. 1123 14


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