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Recalcitrant Cutaneous Mastocytosis Treated With Genetically Informed Targeted Therapy:A Case Report

International Journal of Dermatology and Venereology 2023年第2期6卷 107-109页

作者： Laura Gleason Volkan Tekmen Alexa Cohen safiyyah bhatti Burcu Beksac Jisun Cha Pierluigi Porcu Neda Nikbakht Department of Dermatology and Cutaneous Biology Thomas Jefferson UniversityPhiladelphiaPA 19107USA Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplant Department of Medical OncologySidney Kimmel Cancer CenterThomas Jefferson UniversityPhiladelphiaPA 19107USA Department of Dermatopathology Schweiger Dermatology GroupNew YorkNY 10006USA

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 a 23-year-old woman with recalcitrant cutaneous mastocytosis.The analysis revealed a aspartic acid to valine substitution at codon 816(D816V)mutation in the protein c-KIT.Based on these results,we initiated treatment with the multi-kinase/KIT inhibitor midostaurin,a treatment effective against the D816V c-KIT mutation.After 3 months of treatment,the patient exhibited a reduction in the number and size of cutaneous lesions and reported resolution of pruritus and decreased severity of other mast cell-related symptoms.Discussion:The treatment of mastocytosis relies heavily on whether the disease is limited to the skin or systemic.However,there are no guidelines for cutaneous mastocytosis that does not respond to symptomatic management.In the present report describing a patient with recalcitrant cutaneous mastocytosis,we describe a strategy in which skin mutational analysis is used to guide the selection of targeted therapy.Conclusion:Performing mast cell mutational analyses in the skin provides a means to select targeted therapy for symptomatic and refractory cutaneous mastocytosis.

关键词： mastocytosis c-KIT molecular genetics targeted therapy midostaurin

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Neutrophilic Panniculitis Associated With Myelodysplastic Syndrome/Myeloproliferative Neoplasm:A Case Report and Literature Review

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International Journal of Dermatology and Venereology 2023年第3期6卷 168-171页

作者： Alexa J.Cohen Laura K.Gleason safiyyah A.bhatti Neda Nikbakht Department of Dermatology and Cutaneous Biology Thomas Jefferson UniversityPhiladelphiaPA 19107USA Department of Hematology&Oncology Thomas Jefferson UniversityPhiladelphiaPA 19107USA

Introduction:Neutrophilic panniculitis(NP)is a rare subtype of neutrophilic dermatosis,a group of neutrophilrich inflammatory skin disorders that can present in association with myeloid neoplasms.NP is defined by the presence of a neutrophilic infiltrate in the fat lobules of the subcutis in the absence of either infection or vasculitis.We herein describe a 65-year-old woman with a recent diagnosis of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndrome(MDS/MPN)who abruptly developed painful,pruritic nodules consistent with NP.Case presentation:A 65-year-old woman with MDS/MPN presented for evaluation of painful and pruritic nodules on her upper and lower extremities.A biopsy revealed a lobular neutrophilic infiltrate in the subcutis without evidence of microorganisms or vasculitis.The patient was diagnosed with NP and treated with oral prednisone.Within 1 month of treatment,she reported complete resolution of the nodules.Discussion:Similar to other neutrophilic dermatoses,NP may arise in association with hematologic malignancies of myeloid origin,such as MDS/MPN.A literature review revealed that most cases of NP associated with MDS occur after the onset of MDS and respond to systemic corticosteroids,not antibiotics.Infection should be ruled out before initiating treatment with systemic steroids.Conclusion:Although the mechanism is still unknown,it is important for clinicians to be aware that NP is associated with MDS;thus,hematological malignancies should be investigated on diagnosis of NP.Once diagnosed,NP is easily treated and has an excellent response to systemic corticosteroids.

关键词： neutrophilic panniculitis myelodysplastic syndrome neutrophilic dermatoses

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