We present a case of a neonate born with kaposiform hemangioendothelioma (KHE), complicated by Kasabach-Merritt phenomenon (KMP) and other serious conditions, who was successfully treated with sirolimus. In addition to complications from thrombocytopenia and fluid overload, during the course of therapy, our patient experienced supratherapeutic drug levels at the commonly accepted starting dose of sirolimus. Patients with KHE and KMP should be closely monitored for potential complications of both the initial disease and unexpected side effects of treatments.
View Article and Find Full Text PDFNeurofibromatosis Type 1 (NF1) is a genetic disorder with an incidence of 1 in 2600 to 3000 individuals. It is a clinical diagnosis characterized by café-au-lait macules, neurofibromas, and axillary and/or groin freckling. Because of genetic mutations in the NF1 gene affecting the Ras/mitogen-activated protein kinase pathway, there is also risk of associated soft tissue sarcomas and hematologic malignancies.
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