Ollier disease is a rare sporadic nonhereditary skeletal disorder in which typically benign cartilaginous tumors (enchondromas) develop near the growth plate cartilage.
This is caused by cartilage rests that grow and reside within the metaphysis or diaphysis and eventually mineralize over time to form multiple enchondromas.
Currently, there are no forms of treatment for the underlying condition of Ollier disease but complications such as fractures, deformities, malignancies that arise from it can be treated through surgical procedures.
[citation needed] Ollier disease carries a higher risk of malignancies such as central nervous system (CNS), ovarian, and adenocarcinoma.
[citation needed] 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.
Sanger sequencing analysis concluded that exon 4 is the primary location of mutations in IDH1 and IDH2 genes are specifically responsible for hemangiomas.
[21][22] 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.
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.
[1] Clinical and radiological evaluations are conducted in order to detect the presence of bone neoplasms or lesions typically found in Ollier disease.
These bone lesions are visible at birth using radiography but are usually not screened or examined for until clinical manifestations present during early childhood.
In an X-ray, there would normally be the presence of several homogeneous lesions of an oval or elongated shape with bone edges that are slightly thickened.
Early detection and consistent and repeated monitoring is important in order to prevent and treat any potential bone neoplasms.
The ring fixators used in the Ilizarov technique have been shown to be very versatile for realigning and lengthening limb bones while also managing soft tissue tension.
Reduced latency periods followed by faster distraction times are encouraged in order to prevent premature healing.
This form of treatment is not suitable for the elongation of bones with a small shaft diameter or sections containing open growth zones.
Patients with severe forms of Ollier disease also are not suited for surgery because of an increased risk of complications due to bone frame instability.
This technique used in conjunction with a circular external fixator has been shown to significantly reduce Healing Index values in both monosegmental and polysegmental lengthening.
[citation needed] Malignant transformations of any or multiple enchondromas are common in patients with Ollier disease and typically emerge in young adults often requiring surgery.
Some examples of surgical procedures performed to treat secondary malignant bone neoplasms from Ollier disease include amputation, wide-local excisions, hemipelvectomy, and arthroplasty.
[30] Cobalt and chemotherapy are typically not primary methods of surgery as chondrosarcomas generally do not have enough blood supply to make it an effective form of treatment.