Enchondromatosis

Enchondromatosis, also known as Ollier's disease, is the asymmetric distribution of multiple enchondromas. Enchondromas are benign cartilage tumors that form in the immediate vicinity of the growth plates. Furthermore, they are located in the metaphyses of the distal hand and foot bones and the long bones.

The cartilaginous lesions, which usually occur in the first year of life, are very variable in terms of their localization, size, number, development and age at diagnosis. The enchondromas cause skeletal deformities, differences in length of the limbs and a risk of chondrosarcoma (25%).

The growth of the enchondromas and the resulting symptoms begins with the growth phase of the skeleton and usually sets in with the end of the length growth. The patients do not feel pain caused by the lesions.

Enchondromatosis associated with soft-tissue hemangiomas runs under the name Maffucci syndrome, with neither Ollier's disease nor Mafucci's syndrome occurring as yet familial.

According to the current state, it is not clear whether the disease is caused by a single defect or by the combination of somatic and / or germline mutations. The patients had frequent mutations in the genes IDH1 and IDH2 aud, which code for isocitrate dehydrognase 1 and 2.