Kutana mastocitoza

Nika Baldani, Suzana Ljubojević Hadžavdić

Kutana mastocitoza rijetka je bolest obilježena proliferacijom i akumulacijom abnormalnih mastocita u koži, bez dokaza zahvaćenosti unutarnjih organa. Predstavlja najčešći oblik mastocitoze u pedijatrijskoj dobi, dok u odraslih pacijenata kožne promjene često upućuju na prisutnost sistemske bolesti. Prema važećim klasifikacijama, razlikuju se tri glavna klinička oblika kutane mastocitoze: makulopapularna kutana mastocitoza, difuzna kutana mastocitoza i mastocitom kože. Patogeneza bolesti najčešće je povezana s aktivirajućim mutacijama protoonkogena KIT, koje dovode do konstitutivne aktivacije receptora KIT i pojačane proliferacije mastocita. Klinička slika izrazito je heterogena te obuhvaća spektar kožnih manifestacija, često praćenih simptomima posredovanim otpuštanjem mastocitnih medijatora, poput pruritusa, naleta crvenila, gastrointestinalnih tegoba i anafilaktičkih reakcija. Dijagnoza se temelji na kliničkom pregledu, pozitivnom Darierovu znaku, dermatohistopatološkoj analizi te procjeni bazalne koncentracije serumske triptaze i mutacijskog statusa gena KIT. Terapijski pristup usmjeren je na izbjegavanje provocirajućih čimbenika i simptomatsko liječenje, dok kauzalna terapija zasad nije dostupna. Kutana mastocitoza predstavlja važan klinički znak koji može upućivati na prisutnost sistemske bolesti te zahtijeva procjenu rizika od potencijalno životno ugrožavajućih manifestacija, uključujući anafilaksiju.

Cutaneous mastocytosis is a rare disorder characterized by the proliferation and accumulation of abnormal mast cells in the skin, without evidence of internal organ involvement. It represents the most common form of mastocytosis in childhood, whereas in adult patients cutaneous manifestations often indicate the presence of systemic disease. According to current classifications, three main clinical variants of cutaneous mastocytosis are distinguished: maculopapular cutaneous mastocytosis, diffuse cutaneous mastocytosis, and cutaneous mastocytoma. The pathogenesis of the disease is most commonly associated with activating mutations of the KIT proto-oncogene, leading to constitutive activation of the KIT receptor and increased mast cell proliferation. The clinical presentation is highly heterogeneous and encompasses a broad spectrum of cutaneous manifestations, frequently accompanied by symptoms mediated by mast cell mediator release, such as pruritus, flushing, gastrointestinal complaints, and anaphylactic reactions. Diagnosis is based on clinical examination, a positive Darier’s sign, dermatohistopathological analysis, and assessment of baseline serum tryptase levels and KIT mutational status. Therapeutic management focuses on avoidance of triggering factors and symptomatic treatment, as causal therapy is currently not available. Cutaneous mastocytosis represents an important clinical sign that may indicate systemic disease and enables assessment of the risk of potentially life-threatening manifestations, including anaphylaxis.