Orvosi hetilap · 2013
[Clinical observations in cutan mastocytosis].
Аннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Mihalik Noémi, Hidvégi Bernadett, Hársing Judit, Várkonyi Judit, Csomor Judit, Kovalszky Ilona, Marschalkó Márta, Kárpáti Sarolta
Аннотация
INTRODUCTION: 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.
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-α 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.
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-α 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.