Osteochondroma

[8] The treatment choice for osteochondroma is surgical removal of the solitary lesion or partial excision of the outgrowth, when symptoms cause motion limitations or nerve and blood vessel impingements.

[1][3] A variety of surgical procedures have been employed to remedy hereditary multiple exostoses such as osteochondroma excision, bone lengthening, corrective osteotomy and hemiepiphysiodesis.

[3] Because most studies of hereditary multiple exostoses are retrospective and of limited sample size with missing data, the best evidence for each of the currently practiced surgical procedures is lacking.

Some of the most common symptoms are a hard immobile painless palpable mass, adjacent muscle soreness, and pressure or irritation with heavy exercising.

[5] Major symptoms arise when complications such as fractures, bone deformity or mechanical joint problems occur.

If the occurrence of an osteochondroma is near a nerve or a blood vessel, the affected limb can experience numbness, weakness, loss of pulse or color change.

The biosynthesis of HS takes place in the Golgi apparatus and endoplasmic reticulum, where glycosaminoglycans chains are maintained by type II glycosyltransferases encoded by EXOSTOSIN genes EXT1 and EXT2.

In large, secondary chondrosarcoma arises at the site of osteochondroma due to increased thickness of the cartilage cap indicating potential malignant transformation.

Painless bumps can arise at the site of tumor and pain and other discomforts can also take place if pressure is put on the soft tissues, nerves, or blood vessels.

[4][11] Dysplasia Epiphysealis Hemimelica (DEH) or Trevor's disease and metachondromatosis (MC) are considered differential diagnosis of both solitary and hereditary osteochondromas.

Metachondromatosis is a rare disorder that exhibit symptoms of both multiple osteochondromas and enchondromas in children and is also inherited in autosomal dominant mode.

Treatments for solitary osteochondroma are careful observation over time and taking regular x-rays to monitor any changes in the tumor.

[11] If the lesion is causing pain with activity, nerve or vessel impingement, or if the bone growth has fully matured and the presence of a large cartilage cap is prominent, then it is advised that the tumor be surgically removed.

[15][16] Osteochondromas have a low rate of malignancy (<1%) and resection of the tumor is suggested if symptoms such as pain, limitation of movement, or impingement on nerves or vessels occur.

[citation needed] Depending on the size and location of the tumor, the time it takes to return to normal daily activities varies between individuals.

The expression of xbp1, master regulator of osterix gets reduced, suggesting that unfolded proteins responses may play a role in pathogenesis of multiple osteochondroma.

The research concludes that heparan sulphates are required for terminal differentiation and formation of scaffold that is needed for bone development.

Due to the findings of bone-fat imbalance in Zebra fish model, future studies should address status of lipid composition in patients with multiple osteochondroma.

[9] Research conducted using sequencing methods has identified a novel frame shift mutation at the glycosyltransferase domain (c.1457insG) located at codon 486 of exon 6 of the EXT1 gene, that causes multiple osteochondromas.

Based on these results future studies should elucidate the underlying molecular mechanism of the glycosyltransferase domain of the EXT1 and its involvement in the development of multiple osteochondromas.

Surgical extraction of osteochondromas is sometimes beneficial. Shown is an osteochondroma surgically extracted from a ten-year-old patient. The bone is the cylindrical stalk at the bottom, about 1/2 inch long, the two diagonal growths are cartilage. This morphology is typical of a tibial bone spur.