An infant with juvenile xanthogranuloma, multiple cafe-au-lait macules, acute myeloid leukaemia: an incomplete, rare form of triple association?

摘要

Although the triple association of juvenile xanthogranuloma (JXG), neurofibromatosis 1 (NF1) and juvenile myelo-monocytic leukaemia (JMML) has been proposed;1 the significance of this unusual combination was challenged by some authors.2-3A previous study by Zvulunov et al. concluded a 20 to 32 times higher risk of developing JMML in patients with both NF1 and JXG than in patients with NF1 alone.4 However, a later study reported no case of JMML or other haematological malignancies in 14 patients with both NF1 and JXG.2 Their observation did not support routine screening for JMML in the group of children with NF1 and JXG. Here, we present an unusual case of JXG, multiple cafe-au-lait macules and acute myeloid leukaemia.