title: Juvenile myelomonocytic leukemia presenting with features of hemophagocytic lymphohistiocytosis in association with neurofibromatosis and juvenile xanthogranulomas.
abstract: An association exists among neurofibromatosis 1 (NF1), juvenile xanthogranulomas (JXGs), and juvenile myelomonocytic leukemia (JMML). The authors describe a patient with the triple association of JXG, NF1, and JMML initially presenting with features of hemophagocytic lymphohistiocytosis (HLH). An 18-month old boy had multiple cutaneous and gastrointestinal JXG and NF1. At 3 years of age he developed anemia, thrombocytopenia, and hepatosplenomegaly. A bone marrow biopsy revealed features of HLH. Despite chemotherapy, he went on to develop JMML, which proved fatal.
authors.affiliation: Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New York 10016, USA. shinh01@med.nyu.edu
authors.forename: Helen T
authors.initials: HT
authors.lastname: Shin
authors.forename: Michael B
authors.initials: MB
authors.lastname: Harris
authors.forename: Seth J
authors.initials: SJ
authors.lastname: Orlow
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D017809:Fatal Outcome; D015616:Histiocytosis, Non-Langerhans-Cell / Q000188:drug therapy / Q000473:pathology*; D006801:Humans; D007223:Infant; D015477:Leukemia, Myelomonocytic, Chronic / Q000175:diagnosis* / Q000188:drug therapy; D008297:Male; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D014972:Xanthogranuloma, Juvenile / Q000175:diagnosis*