2,3,5,6) Additionally, Pansuriya and coworkers recently found that there are also mutations in the gene encoding isocitrate dehydrogenase 1 and 2 in enchondromas and spindle cell hemangiomas.
The presentation of the enchondromas in Maffucci syndrome is asymmetrically distributed and can be extremely variable in terms of size, number, location, age, and evolution.
11) By definition, these multiple enchondromas are associated with soft tissue swelling and calcifications and phleboliths, which are typical of hemangiomas.
Moreover, while infection, metastatic lesions, and aneurysmal bone cysts typically present with pain, discomfort is rare (in the absence of trauma) with fibrous dysplasia, enchondromas, and solitary bone cysts.
Enchondromas are centrally located, geographic, and predominantly lytic-appearing lesions, which almost invariably contain a chondroid matrix when found in the long bones (Figure 5).
Low-grade chondrosarcoma can be difficult, if not impossible, to differentiate from an enchondroma, which is the primary alternative consideration in the differential diagnosis.
When multiple enchondromas are present in a single patient, the condition is called generalized enchondromatosis.
The most common type of enchondromatosis is Ollier disease, a disorder characterized by multiple enchondromas arising in tubular and flat bones and sparing the skull and spine.
Recent research has identified a functionally deleterious mutation in the PTHR1 gene in the enchondromas of several patients with Oilier disease and Maffucci syndrome.
A similar rare condition, Maffucci's syndrome, is manifested by enchondromas and soft tissue vascular lesions.
Maffucci's syndrome is associated with a higher frequency of malignant transformation of the enchondromas than is Ollier's disease.
Maffucci's syndrome associated with intracranial enchondroma
and aneurysm: Case report.