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.
Raygada
Margarita
M
Eunice Kennedy Shriver National Institute of Child Health and Human Development, Section on Developmental Genetics, Bethesda, MD 20892-1831, USA. mr346j@nih.gov
Arthur
Diane C
DC
Wayne
Alan S
AS
Rennert
Owen M
OM
Toretsky
Jeffrey A
JA
Stratakis
Constantine A
CA
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