Hereditary multiple exostoses (HME) is an autosomal dominant disorder chara
cterized by the presence of multiple exostoses. Three genetic loci have bee
n identified, of which two (EXT1 and EXT2) have tumor suppressor activity.
HME greatly increases the risk to develop sarcoma in the dysplastic tissue.
The authors report an 8-year-old girl with HME, who developed acute myelob
lastic leukemia.