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)

Systemic mastocytosis (SM) is a rare disease with abnormal proliferation and infiltration of mast cells in the skin, bone marrow, and viscera including the mucosal surfaces of the digestive tract. Gastrointestinal (GI) symptoms occur in 14%-85% of patients with systemic mastocytosis. The GI symptoms may be as frequent as the better known pruritus, urticaria pigmentosa, and flushing. In fact most recent studies show that the GI symptoms are especially important clinically due to the severity and chronicity of the effects that they produce. GI symptoms may include abdominal pain, diarrhea, nausea, vomiting, and bloating. A case of predominantly GI systemic mastocytosis with unique endoscopic images and pathologic confirmation is herein presented, as well as a current review of the GI manifestations of this disease including endoscopic appearances. Issues such as treatment and prognosis will not be discussed for the purposes of this paper.
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PMID:Gastrointestinal manifestations of systemic mastocytosis. 1905 39

Cutaneous mastocytosis is characterized by increased numbers of skin mast cells that release mediators causing pruritus, urticaria, and flushing. Most pediatric mastocytosis patients exhibit the pattern of urticaria pigmentosa, which typically appears during the first two years of life and resolves spontaneously in late adolescence. However, while the disease is active, patients are frequently symptomatic and uncomfortable, which justifies symptomatic treatment. We report 2 patients, a 14-month-old girl and a 26-month-old boy, with localized cutaneous erythematous lesions with a positive Darier sign. In each, a punch biopsy confirmed the diagnosis of mastocytosis. Treatment was instituted with pimecrolimus cream twice a day and oral antihistamine. An almost complete response was achieved after 4 months of therapy in both patients, with no clinical evidence of recurrence after 4 years and 2 years of follow-up, respectively. In children, the treatment of mastocytosis is directed primarily to avoiding potential mast cell degranulating agents and alleviating symptoms. Topical calcineurin inhibitors act by inhibiting T-cell activation and cytokine release; they may suppress mast cell- mediated reactions by reducing their degranulation. These two cases suggest that in localized cutaneous mastocytosis they are a safe and efficacious alternative to topical steroid therapy.
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PMID:Cutaneous mastocytosis: Two pediatric cases treated with topical pimecrolimus. 2049 25

Mast cell disorders are defined by an abnormal accumulation of tissue mast cells in one or more organ systems. In systemic mastocytosis, at least one extracutaneous organ is involved by definition. Although, systemic mastocytosis usually represents with skin lesion called urticaria pigmentosa, in a small proportion, there is extracutaneous involvement without skin infiltration. Other manifestations are flushing, tachycardia, dyspepsia, diarrhea, hypotension, syncope, and rarely fever. Various medications have been used but there is not a definite cure for systemic mastocytosis. The principles of treatment include control of symptoms with measures aimed to decrease mast cell activation. We describe a case of systemic mastocytosis presenting with hypotension, syncope attacks, fever, and local flushing. In bone marrow biopsy, increased mast cell infiltration was demonstrated. She had no skin infiltration. A good clinicopathological response was obtained acutely with combination therapy of glucocorticoid and cyclosporine.
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PMID:Hypotension, Syncope, and Fever in Systemic Mastocytosis without Skin Infiltration and Rapid Response to Corticosteroid and Cyclosporin: A Case Report. 2120 30

Cutaneous mastocytosis in children is a generally benign disease that can present at birth and is often associated with mast cell mediator-related symptoms including pruritus, flushing, and abdominal pain with diarrhea. The most common form of presentation is urticaria pigmentosa, also referred to as maculopapular mastocytosis. Flares of lesions are induced by triggers such as physical stimuli, changes in temperature, anxiety, medications, and exercise. The skin lesions are typically present on the extremities. Symptoms respond to topical and systemic anti-mediator therapy including antihistamines and cromolyn sodium. Remission at puberty is seen in a majority of cases. Progression to systemic mastocytosis with involvement of extracutaneous organs is not common. The cause of cutaneous mastocytosis is unknown and familial cases are rare. Mutations of c-kit have been observed in the skin of those affected. The diagnosis is established on clinical grounds and the findings on skin biopsy. Bone marrow studies are recommended if there is suspicion of progression of disease to an adult form, if cytoreductive therapy is contemplated, or if skin lesions remain present and/or tryptase levels remain elevated after puberty. The use of chemotherapy, including kinase inhibitors, is strongly discouraged unless severe hematologic disease is present, since malignant evolution is extremely rare.
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PMID:Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations. 2166 33

Neonatal cutaneous mastocytosis is rare infiltrative disorder of the skin. Though often asymptomatic, systemic features may be associated with any clinical pattern of the disorder at any age group. We present our experience with a 3 1/2 months old female child. She presented with recurrent eruption of tense bullae preceded by flushing, irritability since day 3 of life. Darier sign and dermatographism were present. Skin biopsy confirmed the case as urticaria pigmentosa which is the most common form of cutaneous mastocytosis. Investigation revealed deranged liver function. Child was given H1 antihistaminics and topical glucocorticoid. Family counselled about chance of anaphylaxis to various toxins and drugs and risk of development of systemic mastocytosis.
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PMID:Neonatal cutaneous mastocytosis. 2218 77

Systemic mastocytosis (SM) is a rare clonal disorder of mast cells that can range from chronic smouldering type to aggressive mast cell leukaemia. It presents with non-specific symptoms like urticaria pigmentosa, unexplained flushing, hypotension and abdominal cramps, which may lead to a misdiagnosis, if there is no high index of clinical suspicion. This is a case report of a 52-year-old lady, with systemic mastocytosis, who presented with severe chronic back ache and no other clinical features. X - ray revealed lytic lesions in the lumbar vertebrae and bone marrow aspiration and a trephine biopsy examination showed infiltration by mast cells, with a positivity for Toluidine blue stain and CD 117. She was also noted to have peripheral eosinophilia, which is frequently encountered with this condition. She was diagnosed to have chronic indolent systemic mastocytosis which involved the bone predominantly.
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PMID:Systemic mastocytosis: predominantly involving the bone, a case report. 2429 98

Mastocytosis has a bimodal distribution often presenting in children from birth to 2 years of age and in those over the age of 15. Pediatric mastocytosis is due to the effects of mast-cell degranulation enzymes such as histamine and tryptase causing the presentation of pruritis, flushing, vesicles, abdominal and bone pain, or headache. Three different forms of mastocytosis can occur: urticaria pigmentosa, diffuse cutaneous, and solitary mastocytoma. Systemic symptoms are typically a result of mast-cell mediator release but do not prove systemic mast-cell hyperplasia. In this review, we present several research studies related to pediatric mast-cell disorders, and discuss several cases of pediatric mastocytosis, acute myeloid leukemia, pathophysiology, genetic studies, and treatment.
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PMID:Pediatric Mastocytosis: A Review of the Literature. 2438 17

Although the prognosis of maculopapular cutaneous mastocytosis (MPCM), also referred to as urticaria pigmentosa, is often benign, clinicians lack evidence to reliably predict those at risk of associated systemic manifestations. We sought to elucidate clinical markers of disease severity to provide better treatment and prognostic information for individuals with MPCM. A retrospective chart review querying characteristics of children diagnosed with MPCM in the Emory Dermatology Clinic was performed. Follow-up was obtained through a clinical encounter or telephone interview. Linear regression was used to determine predictors of the number of MPCM-related systemic symptoms. Of 67 subjects, 57% were male, and the mean age of onset was 4.5 months. The maximum number of MPCM lesions was 1 to 10 in 16%, 11 to 30 in 33%, 31 to 50 in 25%, 51 to 100 in 6%, and more than 100 in 20% of subjects. For their MPCM lesions, 46% of subjects reported itching, 34% flushing, and 25% blistering. Reported systemic symptoms included diarrhea (22%), abdominal pain (15%), wheezing or dyspnea (13%), vomiting (10%), bone pain (10%), headaches (8%), cough (10%), rhinorrhea (8%), irritability (6%), and anaphylaxis (1.5%). In a multivariate linear regression analysis, the maximum number of MPCM lesions (p = 0.02) and the number of skin symptoms (p < 0.01) were statistically significant predictors of the number of systemic symptoms, controlling for age of onset, body sites involved, and sex. The correlation between cutaneous findings and symptomatology could aid clinicians in identifying individuals with MPCM who might warrant systemic evaluation and therapy.
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PMID:Severity of cutaneous findings predict the presence of systemic symptoms in pediatric maculopapular cutaneous mastocytosis. 2461 40

Mastocytosis is a complex disorder characterized by the accumulation of abnormal mast cells (MC) in the skin, bone marrow and/or other visceral organs. The clinical manifestations result from MC-derived mediators and, less frequently, from destructive infiltration of MCs. Patients suffer from a variety of symptoms including pruritus, flushing and life-threatening anaphylaxis. Whilst mastocytosis is likely to be suspected in a patient with typical skin lesions [i.e. urticaria pigmentosa (UP)], the absence of cutaneous signs does not rule out the diagnosis of this disease. Mastocytosis should be suspected in cases of recurrent, unexplained or severe insect-induced anaphylaxis or symptoms of MC degranulation without true allergy. In rare cases, unexplained osteoporosis or unexplained haematological abnormalities can be underlying feature of mastocytosis, particularly when these conditions are associated with elevated baseline serum tryptase levels. The diagnosis is based on the World Health Organization criteria, in which the tryptase level, histopathological and immunophenotypic evaluation of MCs and molecular analysis are crucial. A somatic KIT mutation, the most common of which is D816V, is usually detectable in MCs and their progenitors. Once a diagnosis of systemic mastocytosis (SM) is made, it is mandatory to assess the burden of the disease, its activity, subtype and prognosis, and the appropriate therapy. Mastocytosis comprises seven different categories that range from indolent forms, such as cutaneous and indolent SM, to progressive forms, such as aggressive SM and MC leukaemia. Although prognosis is good in patients with indolent forms of the disease, patients with advanced categories have a poor prognosis.
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PMID:Mastocytosis: the puzzling clinical spectrum and challenging diagnostic aspects of an enigmatic disease. 2634 86


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