Orvosi Hetilap
Volume/Issue:
Volume 154: Issue 37
Clinical observations in cutan mastocytosis
Authors: Noémi Mihalik 1 , Bernadett Hidvégi 1 , Judit Hársing 1 , Judit Várkonyi 2 , Judit Csomor 3 , Ilona Kovalszky 3 , Márta Marschalkó 1 , and Sarolta Kárpáti 1
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  • 1 Semmelweis Egyetem, Általános Orvostudományi Kar Bőr-, Nemikórtani és Bőronkológiai Klinika Budapest Mária u. 41. 1085
  • 2 Semmelweis Egyetem, Általános Orvostudományi Kar III. Belgyógyászati Klinika Budapest
  • 3 Semmelweis Egyetem, Általános Orvostudományi Kar I. Patológiai és Kísérleti Rákkutató Intézet Budapest
DOI:
https://doi.org/10.1556/oh.2013.29702
Page Count:
1469–1475
Publication Date:
01 Sep 2013
Online Publication Date:
09 Sep 2013
Article Category:
Research Article
Open access

Bevezetés: A mastocytosis a hízósejtek (mastocyták) felszaporodásával járó ritka megbetegedés, amely a WHO-besorolás szerint cutan és szisztémás formákra osztható. A klinikai tünetekhez a hízósejtek szöveti infiltrációja és/vagy a mediátorfelszabadulás vezet. Célkitűzés: A szerzők a Semmelweis Egyetem Mastocytosis Hálózat részeként a jellegzetes bőrtüneteket mutató betegek kivizsgálásával szerzett tapasztalatainak összefoglalását tűzték ki célul. Módszer: Összesen 22 mastocytosisos felnőtt beteget vizsgáltak. A diagnózis felállítása bőrszövettani vizsgálat, csontvelővizsgálat, D816V szomatikus c-KIT-mutációanalízis alapján történt. Eredmények: Húsz beteg esetében urticaria pigmentosát, egy esetben teleangiectasia macularis eruptiva perstanst észleltek. A bőr szövettani vizsgálata minden esetben igazolta a klinikai diagnózist. Cristabiopsziával 9/12 esetben a csontvelői részvétel alapján indolens szisztémás mastocytosis diagnózisa volt felállítható. c-KIT-mutációt (D816V) egy betegben igazoltak mind a csontvelőben, mind a bőrben. A betegek a klinikum függvényében antihisztamin, PUVA, a c-kit-szekvenálás eredménye alapján alfa-interferon vagy tirozinkináz-gátló terápiában részesültek. Következtetések: A mastocytosis diagnózisának felállításában a bőrgyógyász szerepe kiemelten fontos, de a betegség kiterjedtségének tisztázására a csontvelő vizsgálatát minden esetben tanácsos elvégezni. Orv. Hetil., 2013, 154, 1469–1475.

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Cover Orvosi Hetilap
Orvosi Hetilap
Print ISSN:
0030-6002
Online ISSN:
1788-6120
Keywords:
mastocytosis; bőr; csontvelő; urticaria pigmentosa; c-KIT; mastocytosis; skin; bone marrow; urticaria pigmentosa; c-KIT

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