Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P10721 (c-kit)
 6,575 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
 ...
PMID:Telangiectasia macularis eruptiva perstans and multiple myeloma. 1104 37

A 45-year-old man presented with lesions clinically and histologically consistent with telangiectasis macularis eruptiva perstans (TMEP). TMEP is a rare form of mastocytosis, which is localized to the skin, although systemic involvement has been reported. A mutation in the c-kit proto-oncogene is thought to be involved in mast cell hyperplasia in some patients with mastocytosis. Treatment depends on the presence of systemic involvement or clinical symptoms. In case reports, therapeutic benefit has been reported in TMEP with the use of the 585-flashlamp pumped dye lasers and of electron beam radiation.
 ...
PMID:Telangiectasia macularis eruptiva perstans. 1574 71

A 62-year-old obese woman presented with a malignant melanoma (Stage la). In addition, she had disseminated telangiectatic macules on both thighs. Intensive rubbing of lesions resulted in wheals. Biopsy revealed increased numbers of mast cells. We diagnosed telangiectasia macularis eruptiva perstans, a rare clinical form of adult maculopapular cutaneous mastocytosis, a group which also includes urticaria pigmentosa. No evidence was found for systemic involvement. Possible associations with malignant tumors and the possible role of c-kit mutations both in development of melanoma and mastocytosis are discussed.
 ...
PMID:Telangiectasia macularis eruptiva perstans, a form of cutaneous mastocytosis, associated with malignant melanoma. 1905 27

Systemic mastocytosis is a rare disease involving the infiltration and accumulation of active mast cells within any organ system. By far, the most common organ affected is the skin. Cutaneous manifestations of mastocytosis, including Urticaria Pigmentosa (UP), cutaneous mastocytoma or telangiectasia macularis eruptive perstans (TMEP), may indicate a more serious and potentially life-threatening underlying disease. The presence of either UP or TMEP in a patient with anaphylactic symptoms should suggest the likelihood of systemic mastocytosis, with the caveat that systemic complications are more likely to occur in patients with UP. TMEP can usually be identified by the typical morphology, but a skin biopsy is confirmative. In patients with elevated tryptase levels or those with frequent systemic manifestations, a bone marrow biopsy is essential in order to demonstrate mast cell infiltration. Further genetic testing for mutations of c-kit gene or the FIP1L1 gene may help with disease classification and/or therapeutic approaches. Rarely, TMEP has been described with malignancy, radiation therapy, and myeloproliferative disorders. A few familial cases have also been described. In this review, we discuss the clinical features, diagnosis and management of patients with TMEP. We also discuss the possible molecular pathogenesis and the role of genetics in disease classification and treatment.
...
PMID:Telangiectasia macularis eruptiva perstans: more than skin deep. 2538 56