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Query: UNIPROT:P15088 (mast cell)
 14,925 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Erythrodermic mastocytosis is a rare variant of diffuse cutaneous mastocytosis in which the skin becomes red, thickened, and lichenified and has a doughy consistency with multiple small papules on its surface, giving a leathery appearance to the skin. In this report, I describe a curious case of erythrodermic mastocytosis that appears to be due to vasodilation rather than to mast cell infiltration of the skin. In my opinion, this case might be an example of generalized telangiectasia macularis eruptiva perstans. Results of all laboratory tests failed to demonstrate systemic mast cell involvement; therapy with a combination of H1 and H2 antihistamines plus disodium cromoglycate controlled the symptoms.
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PMID:Erythrodermic mastocytosis. 153 60

We describe urticaria pigmentosa in three generations of a kindred. Unique to this family is the marked diversity of their skin disease. Classic lesions of urticaria pigmentosa, telangiectasia macularis eruptiva perstans, and clinically normal skin with positive dermal infiltrates of excess mast cells were found in individual family members. Urticaria pigmentosa is rarely reported as an inherited disease. To our knowledge, this is the largest American kindred of familial mast cell disease and is the second report documenting disease in three generations.
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PMID:Familial urticaria pigmentosa. 238 67

The urinary excretion of histamine and its main metabolite, 1-methyl-4-imidazoleacetic acid (MeImAA), was determined in 30 adult patients with the clinical diagnosis of urticaria pigmentosa (UP). Clinical and laboratory investigations including skin histology, bone marrow examination, and scintigraphy of the skeleton, liver, and spleen revealed systemic manifestations in 14 cases. Among the 16 cases with dermal proliferation of mast cells only 3 cases classified as telangiectasia macularis eruptiva perstans (TMEP). All patients with systemic mastocytosis and UP excreted increased amounts of MeImAA in the urine while normal amounts were found in 2 of the patients with TMEP. A significant correlation existed between MeImAA excretion and the extent of mast cell infiltration in skin and internal organs. No such correlation was found for urinary histamine. Urinary MeImAA but not histamine is therefore considered a useful indicator of systemic involvement by reflecting the size of the mast cell histamine pool. The main symptom of the patients was pruritus, which was moderate to severe in 17 and mild or absent in 13 cases. Gastrointestinal symptoms were present in 14 patients. However, there was no obvious correlation between the excretion of MeImAA and any of the symptoms recorded. Neither was the severity of pruritus correlated to the histamine content of the skin, which was measured in both lesional and unaffected skin in 23 of the patients. Thus, symptoms possibly caused by histamine in mastocytosis patients are not directly related to urinary histamine metabolite excretion or tissue histamine content.
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PMID:Studies on histamine metabolism in mastocytosis. 684 97

Mastocytosis is the collective name for a group of clinical syndromes whose signs and symptoms are due to the infiltration of various tissues by mast cells and to the release of chemical mediators by these cells. The skin is the most frequently affected organ. Skin manifestations include urticaria pigmentosa, mastocytoma, diffuse cutaneous mastocytosis and telangiectasia macularis eruptiva perstans. Seven cases of mastocytosis were seen over a 3-year period at the National Skin Centre from 1989 to 1992. All our patients were in the paediatric age group. There were four boys and three girls ranging in age from one year to five years. The mean age of onset of the disease was 2.3 months. Six patients presented with cutaneous signs and symptoms of urticaria pigmentosa and one patient had diffuse cutaneous mastocytosis. Itch was the most prominent symptom seen in all the patients. All the patients had a positive Darier's sign, pathognomonic for mastocytosis. None of the patients had a positive family history. Treatment was conservative and symptomatic, with the use of H1 antihistamines to control itching. A particularly important aspect of management is the avoidance of triggering factors. All our patients have remained well with only skin involvement. The prognosis for children with mast cell disease is good, with at least half of the children with urticaria pigmentosa experiencing reduction of symptoms and lesions by adolescence.
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PMID:Cutaneous mastocytosis in Singapore. 815 91

A markedly elevated serum level of mast cell tryptase (77.6 microg/L; 95th percentile in normals 13.5 microg/L) was detected in a patient treated for 5 years with wasp venom immunotherapy because of severe anaphylaxis following a wasp sting. Retrospective analysis of stored serum samples taken during the course of immunotherapy revealed that the tryptase level had been elevated for at least 3 years. Despite several dermatological examinations, skin changes of mastocytosis had been missed. Re-examination of the patient revealed sparse macules on the thorax and thighs; Darier's sign was negative. Histologically, mast cell accumulation in these lesions was demonstrable. No signs of systemic mastocytosis were detected. The most appropriate diagnosis was telangiectasia macularis eruptiva perstans. Even in patients with highly elevated tryptase levels, mastocytosis may go undiagnosed. As mastocytosis predisposes to severe anaphylaxis, the condition should be looked for in patients with such reactions by clinical examination and measurement of serum tryptase levels.
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PMID:Mastocytosis associated with severe wasp sting anaphylaxis detected by elevated serum mast cell tryptase levels. 1060 62

The association of mast cell diseases and some hematologic malignancies, usually myeloproliferative disorders, myelodysplastic syndromes, and acute leukemia is well recognized. We report the case of a patient with telangiectasia macularis eruptiva perstans, a rare form of cutaneous mastocytosis, and multiple myeloma, an association that has been described only twice in the literature. Parallel improvement of both conditions was observed under chemotherapy regimens for multiple myeloma. Pathogenesis remains unclear, although the abnormalities in the c-kit pathway may play a role in the proliferation of cells from both lineages.
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PMID:Telangiectasia macularis eruptiva perstans and multiple myeloma. 1104 37

The diagnosis of mast cell lesions of the skin can occasionally be challenging. Calretinin, a 29 kD neuron-specific calcium-binding protein found mostly in the CNS and retina, has been shown to be a positive marker for mesotheliomas, and is also expressed in mast cells. We studied the diagnostic value of calretinin and compared our results to other established ancillary studies used to identify mast cells, such as Toluidine blue and the Leder stain. Sixty-three cases were studied, including 45 mast cell lesions (22 urticaria pigmentosum, 17 mastocytomas, and six telangiectasia macularis eruptiva perstans [TMEP]), seven nevi, three melanomas, four granular cell minors of the skin, three cutaneous lymphomas, and one granulocytic sarcoma. Patients ranged in age from less than 1 to 85 years with a median age of 29 years. The group consisted of 36 females and 27 males. Calretinin was expressed in all 45 mast cell lesions. Negative staining for calretinin was seen in all skin lesions that potentially could be considered in the differential diagnosis of mast cell lesions such as nevi, melanomas, lymphomas, and the granulocytic sarcoma. However, calretinin expression was noted in four/four granular cell tumors. Leder and Toluidine blue stains were positive in all 45 mast cell lesions, and all nonmast cell lesions were negative with these stains. In conclusion, our study demonstrated that calretinin is a sensitive and specific marker of mast cells and can be an aid in distinguishing mast cell lesions from other skin lesions considered in the differential diagnosis. Calretinin may be more sensitive than the currently used special stains utilized to diagnose mast cell lesions having few diagnostic mast cells such as TMEP. However, this immunoperoxidase stain does not add significant diagnostic information in most cases, when compared with the currently used less expensive special stains and, therefore, is not cost-effective. Int J Surg Pathol 8(2):119-122, 2000
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PMID:Diagnostic Value of Calretinin in Mast Cell Lesions of the Skin. 1149 76

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

We describe a 65-year-old Japanese man with a 20-year history of telangiectasia macularis eruptiva perstans, who developed polycythemia rubra vera and duodenal ulcer 10 and 12 years respectively after the onset of mastocytosis. Involvement of mast cells was found in neither bone marrow nor gastrointestinal tract. Immunohistochemical staining revealed that the mast cell was positive for both tryptase and chymase, indicating the nature of cutaneous mast cells. Despite the coexistence of a hematologic disorder, our case is suggested to have cutaneous but not systemic mastocytosis presenting as telangiectasia macularis eruptiva perstans.
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PMID:Telangiectasia macularis eruptiva perstans in polycythemia rubra vera. 1187 25

We describe the treatment of a 60-year old man with severely symptomatic telangiectasia macularis eruptiva perstans (TMEP) with a poor response to several standard therapeutic strategies. At that time, the patient underwent total skin electron beam (TSEB) radiation, based on the theory that by decreasing cutaneous mast cell infiltration, his pruritus would be relieved. He received a total dose of 4000 cGys given in 40 fractionated treatments. The patient had complete resolution of both his cutaneous lesions and pruritus, which has continued through one year of follow-up.
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PMID:Treatment of telangiectasia macularis eruptiva perstans with total skin electron beam radiation. 1276 2


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