[MIM 166 000]

Estimated prevalence of 1/100,000. Sporadic. Enchondromatosis that could be due to somatic mosaic mutations of the IDH1 or IDH2 genes. If multiple enchondromas are associated with soft tissue hemangiomas, it is referred to as Maffucci disease or enchondromatosis type 2 (see this term).

Enchondromas are intraosseous tumors, usually benign, that develop near the growth cartilage. Symptomatoly usually begins in the first decade of life. Lesions can vary widely (in terms of size, number, location, evolution, age at diagnosis, and surgical implications). Enchondromas can cause skeletal deformities, asymmetry in limb length, and a potential risk of malignant evolution to chondrosarcoma.

Anesthetic implications:

careful positioning to avoid fractures

References :

• Amary M F, Damato S, Halai D, Eskandarpour M, Berisha Fet al. 
  Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. 
  Nature Genet 2011 ; 43:1262-5

       

Updated: February 2020