Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia.
The association of neurofibromatosis 1 (NF1), juvenile xanthogranulomas (JXG), and juvenile myelomonocytic leukemia (JMML) has been previously reported. We describe herein this triad in a Caucasian male infant with a pathogenic mutation in the NF1 gene (neurofibromin). The clinical course from initial presentation to final diagnosis is detailed; the physical features and hematologic characteristics are discussed. The patient underwent bone marrow transplantation and is currently in remission. Children with concurrent cutaneous café-au-lait and JXG lesions should be evaluated and monitored closely for the possible development of JMML.
Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Developmental Genetics, Bethesda, MD 20892-1831, USA. mr346j@nih.gov
Margarita
M
Raygada
Diane C
DC
Arthur
Alan S
AS
Wayne
Owen M
OM
Rennert
Jeffrey A
JA
Toretsky
Constantine A
CA
Stratakis
D016026:Bone Marrow Transplantation; D006801:Humans; D007223:Infant; D054429:Leukemia, Myelomonocytic, Juvenile / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D008297:Male; D009154:Mutation / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D025542:Neurofibromin 1 / Q000235:genetics; D014972:Xanthogranuloma, Juvenile / Q000150:complications / Q000175:diagnosis* / Q000628:therapy
D025542:Neurofibromin 1