The disease consists of the growth multiple enchondromas which usually develop in early childhood. The growth of these enchondromas usually stops after skeletal maturation. The affected extremity is shortened (asymmetric dwarfism) and sometimes bowed due to epiphyseal fusion anomalies. Bone lesions generally present as cellular during childhood and become more solitary over time. People with<unk>  are prone to breaking bones (fractures) and normally have swollen, aching limbs. However, many cases of solitary enchondromata go unnoticed due to lack of symptoms. Enchondromas are commonly found in the phalanges, metacarpal, and metatarsal bones in patients of<unk>  due to the affinity of enchondromas to long tubular bones such as the femur and humerus. A unilateral distribution of bone lesions is usually observed but bilateral distributions or a singular extremity can occur as well. Approximately a third of the cases show some form of physical deformities of bowing or abnormal limb lengthening. Associated conditions<unk>  carries a higher risk of malignancies such as central nervous system (CNS), ovarian, and adenocarcinoma. Cranial gliomas have been linked with this disorder at an increased rate and at an earlier diagnosis age. A majority of glioma cases contain IDH gene mutations thus explaining the link between the two conditions. Juvenile granulosa cell tumour has also been associated with the disease. One case study indicates that this is due a mesodermal dysplasia in the long bones resulting in ovarian cancer. The incidence of a secondary chondrosarcoma in<unk>  is most commonly approximated at 25–30% with some projections even as high as 50%. Chondrosarcomas are typically developed during young adulthood and mostly form as a unifocal distribution in<unk>  patients. The most common locations of tumors are in the pelvis and shoulder girdle. While chondrosarcoma is the most common form of a secondary malignant bone neoplasm found in cases of<unk> , other forms such as chordomas and osteosarcomas can occur. If left untreated, these malignant transformations may lead to fatal outcomes. A related and even rarer disorder named Maffucci syndrome is a very similar condition that is characterized by the presence of multiple enchondromas with hemangiomas and occasionally lymphangiomas usually near the hands and feet but not limited to the skull, ribs, and spinal bones. This disorder is also sporadic and nonhereditary and usually detected during childhood despite being a congenital condition. Maffucci syndrome has also similarly been linked to IDH1 and IDH2 mutations specifically the IDH1 R132C hotspot mutation. This hotspot mutation is presumed to be responsible for the spindle cell hemangiomas and enchondromas in cases of Maffucci syndrome. Sanger sequencing analysis concluded that exon 4 is the primary location of mutations in IDH1 and IDH2 genes are specifically responsible for hemangiomas. Maffucci syndrome carries a significantly higher risk of malignant transformations like chondrosarcomas but also much more aggressive tumors such as acute lymphocytic leukemia and gastrointestinal and ovarian malignancies.
Ollier disease
Degos disease
Fox–Fordyce disease
Bayoud disease
Pott disease
Salla disease
Kyrle disease
Texier's disease