Rare Diseases Symptoms Automatic Extraction

[Clinical observations in cutan mastocytosis].

[cutaneous mastocytosis]

Mastocytosis is a clonal mast cell proliferative disease, divided into cutaneous and systemic forms. The characteristic symptoms are caused by neoplastic mast cell infiltrations in different organs and/or the release of mediators.The aim of the authors was to summarize their clinical observations in patients with mastocytosis.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.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-α or imatinib.The authors draw attention to this rare disease in order to help recognition of relevant signs and symptoms and establish an early diagnosis.

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  • cushing syndrome
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