Sporadic. Multiple enchondromas associated with soft tissue hemangiomas (in the absence of hemangiomas, this disease is called Ollier's disease or endochodromatosis type 1 [see this term] ).

Clinical presentation:

-             enchondromas are generally benign cartilaginous intraosseous tumors that develop near the growth cartilage zone. They appear between 1 and 5 years of age but are present at birth in 25 % of cases. They cause benign enlargements of the cartilage, most often in the phalanxes and long bones but can appear everywhere. They present as swelling of the fingers or feet or as pathological fracture. They cause significant deformities.

-        vascular malformations: irregularly shaped, dark blue and protruding subcutaneous nodules, located at the distal extremities. Risk of pharyngeal or laryngeal hemangiomas. Venous or lymphatic malformations may be associated.

Possibility of angiosarcomatous degeneration  (50 %). Occasionally: association with other benign or malignant tumors: thyroid, parathyroid adenoma, adrenal tumor, ovarian tumor, breast cancer, or astrocytoma, recurrent chylothorax.

Anesthetic implications:

check for the absence of pharyngeal or laryngeal location, especially in case of persistent cough, dyspnea or dysphagia. Cautious positioning to avoid fractures.

References : 

• Chan SKC, Ng SK, Cho AMW, Oh TE. 
  Anaesthetic implications of Maffucci's syndrome. 
  Anaesth Intensive Care 1998; 26: 586-9.
• Sun GH, Myer III CM. 
  Otolaryngologic manifestations of Maffucci’s syndrome. 
  Int J Pediatr  Otorhinolaryngol 2009; 73: 1015-8. 
• 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