{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T15:07:45Z","timestamp":1695049665239},"reference-count":31,"publisher":"Akademiai Kiado Zrt.","issue":"37","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:p> Introduction: Mastocytosis is a clonal mast cell proliferative disease, devided into cutaneous and systemic forms. The characteristic symptoms are caused by neoplastic mast cell infiltrations in different organs and\/or the release of mediators. Aim: The aim of the authors was to summarize their clinical observations in patients with mastocytosis. Method: 22 adult patients diagnosed consecutively with mastocytosis were enrolled in the study. Skin and bone marrow biopsies were taken to establish the diagnosis and perform c-KIT mutation (D816V) analysis. Results: One of the 22 patients had teleangiectasia macularis eruptiva perstans, while 20\/22 patients had urticaria pigmentosa. All patients had cutaneous lesions. In 12 patients iliac crest biopsy was performed and 9 of them had bone marrow involvement, classified as indolent systemic mastocytosis. The c-kit mutation D816V was found in one subject both in skin and bone marrow samples. The patients were treated with antihistamine, PUVA, interferon-\u03b1 or imatinib. Conclusions: The authors draw attention to this rare disease in order to help recognition of relevant signs and symptoms and establish an early diagnosis. Orv. 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