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Full-Text Articles in Dermatology
Recalcitrant Cutaneous Mastocytosis Treated With Genetically Informed Targeted Therapy: A Case Report, Laura Gleason, Volkan Tekmen, Alexa Cohen, Safiyyah Bhatti, Burcu Beksac, Jisun Cha, Pierluigi Porcu, Neda Nikbakht
Recalcitrant Cutaneous Mastocytosis Treated With Genetically Informed Targeted Therapy: A Case Report, Laura Gleason, Volkan Tekmen, Alexa Cohen, Safiyyah Bhatti, Burcu Beksac, Jisun Cha, Pierluigi Porcu, Neda Nikbakht
Department of Dermatology and Cutaneous Biology Faculty Papers
Introduction:
Mastocytosis, a clonal proliferation of mast cells commonly involving the skin and bone marrow, has a varied clinical presentation ranging from cutaneous lesions to systemic disease. Cutaneous mastocytosis is managed symptomatically, but systemic mastocytosis is treated with targeted therapy against the mutated receptor tyrosine kinase c-KIT, the pathogenic driver of mastocytosis. However, there are no guidelines for the treatment of cutaneous mastocytosis refractory to symptomatic management.
We herein report a method to select genetically informed therapy for symptomatic and recalcitrant cutaneous mastocytosis.
Case presentation:
We performed a mutational analysis of dermal mast cells after enrichment by laser capture in …