For many years, most research has been inconclusive regarding the cause of the disease. Recent studies have shown that most cases of<unk>  are believed to have been caused by isocitrate dhydrogenases IDH1 and IDH2 mutations. In one study, 35 of 43 (81%) patients with<unk>  had either a IDH1 or IDH2 mutation. Another study suggests that R132C IDH1 mutations which are particularly dominant at exon 4 of IDH genes are linked to the growth of vascular lesions. Isocitrate deyhydrogenases IDH1 and IDH2 are catalysts responsible for the conversion of isocitrate to 2-oxoglutarate. The isocitrate deyhydrogenases IDH1 and IDH2 mutations disrupt this process resulting in unregulated production of α-ketoglutarate and a reduction in chondrocyte proliferation. In many cases of cartilaginous tumors, IDH1 and IDH2 point mutations were found thus explaining why<unk>  is associated with many different associated conditions. Based on these case studies, most evidence suggests that the abnormal lining of lesions found in<unk>  would suggest that the condition is caused by a post-zygotic somatic mutation thus resulting in a mosaic genetic disorder. Approximately 8-10% of cases of patients with<unk>  have been linked to PTH1R mutations. A particular case study the mutant heterozygous PTHR1 (R150C) receptor was observed in two unrelated patients with<unk> . This PTHR1 (R150C) mutant causes a reduction in chondrocyte differentiation by triggering the PTHrP-dependent pathway and decreasing PTHLH receptor function by approximately 30% creating enchondromas. One of these patients with the PTHR1 (R150C) mutant was found to have inherited the mutation from his father. This provides credence to the theory that multiple genetic mutations are needed to occur in order for<unk>  to manifest. An alternative theory suggests that since there have been cases of multiple family members with enchondromatosis, the disorder may be passed on through autosomal dominant inheritance.
Ollier disease
Degos disease
Fox–Fordyce disease
Bayoud disease
Pott disease
Salla disease
Kyrle disease
Texier's disease