title: [Clinical observations in cutan mastocytosis].
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  The aim of the authors was to summarize their clinical observations in patients with mastocytosis.
  
  
  METHODS
  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.
authors.affiliation: Semmelweis Egyetem, Általános Orvostudományi Kar Bőr-, Nemikórtani és Bőronkológiai Klinika Budapest Mária u. 41. 1085.
authors.forename: Noémi
authors.initials: N
authors.lastname: Mihalik
authors.forename: Bernadett
authors.initials: B
authors.lastname: Hidvégi
authors.forename: Judit
authors.initials: J
authors.lastname: Hársing
authors.forename: Judit
authors.initials: J
authors.lastname: Várkonyi
authors.forename: Judit
authors.initials: J
authors.lastname: Csomor
authors.forename: Ilona
authors.initials: I
authors.lastname: Kovalszky
authors.forename: Márta
authors.initials: M
authors.lastname: Marschalkó
authors.forename: Sarolta
authors.initials: S
authors.lastname: Kárpáti
mesh_terms: D000328:Adult; D000368:Aged; D001224:Aspartic Acid; D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D034701:Mastocytosis, Cutaneous / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D034721:Mastocytosis, Systemic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D008875:Middle Aged; D017354:Point Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D035583:Rare Diseases; D012867:Skin / Q000473:pathology*; D013684:Telangiectasis / Q000175:diagnosis; D014582:Urticaria Pigmentosa / Q000175:diagnosis; D014633:Valine
chemical_list: D001224:Aspartic Acid; D019009:Proto-Oncogene Proteins c-kit; D014633:Valine