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)

A case of acute Mast-cell leukemia was studied. A 39 years old female presenting with a brief history of abdominal pain and attacks of flushing; peripheral blood and bone marrow contained up to 60% of poorly differentiated blasts with clumping of deep purpule granules. Peroxydase reaction stains were negative, chloroacetate esterase were strongly positive. Toluidine blue revealed metachromatic stain. Histamine content of the cells was highly greater than normal but nos heparinoid activity could be demonstrated. These abnormal mast-cells have been investigated with the electron microscope; only the dense particular type of granule substructure was found, without any lamellae component. The cells were temptatively classified as "immature" mast-cell. The disease was interpretated as an acute leukemic variety of systemic mastocytosis.
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PMID:[Acute mast-cell leukemia. Cytochemical and ultrastructural study, about a particular case (author's transl)]. 5

Bullous mastocytosis is a very rare variant of cutaneous mastocytosis. The condition is characterized by a diffuse infiltration of the skin by mast cells manifesting as yellowish, thickened doughy skin with appearance of large blisters. The authors report herewith a 7-month-old female infant with history of recurrent episodes of vesiculobullous lesions on the face, trunk and the extremities and excessive tendency to rub and scratch the skin for 3 months. She also had recurrent episodes of facial flushing. On cutaneous examination there were multiple flaccid bullae, urticarial wheals and crusted erosions on her scalp, face, neck, trunk and extremities. She had generalised yellowish thick and rough skin, giving doughy feel and 'peau d' orange' appearance of the skin at places. Systemic examination was within normal limits. Skin biopsy from a lesion showed subepidermal bulla and an upper dermal inflammatory infiltrate comprising of lymphocytes and many mast cells. Toluidine blue staining of the cells showed presence of metachromatic granules in these cells. A diagnosis of bullous mastocytosis was made and the patient was treated with oral antihistamines to which there was no satisfactory response. Betamethasone in a dose of 0.1 mg/kg/day given orally caused complete remission of the disease in 4 weeks. The drug was gradually tapered and stopped over the next 6 weeks. There were no side effects of the therapy.
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PMID:Bullous mastocytosis treated with oral betamethasone therapy. 1508 Apr 14

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