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Spontaneous regression of osteochondromatosis of the radius after lengthening of the ulna: a case report.

Despite the high incidence, the natural biologic behavior of the osteochondroma is not yet known. In particular, the spontaneous regression of the exostosis is very rare and as yet an undefined phenomenon. Since the first description by Hunter in 1835, only 11 cases have been reported. On reviewing the reports in the literature, all cases were regressed spontaneously without significant mechanical stimuli such as surgical procedures. The reasons for the spontaneous regression were not explained sufficiently. This study describes one additional case of the spontaneous regression of osteochondromatosis of the radius and ulna after change of the mechanical strain or stress with lengthening of the ulna in a patient with multiple hereditary exostosis. The radiographic findings in this study are presented with some hypotheses explaining this interesting phenomenon.

Adolescent↗
PubMed1997

Cervical laminar exostosis in multiple hereditary osteochondromatosis: anterior stabilization and fusion technique for preventing instability.

Multiple hereditary osteochondromatosis is a genetically transmitted disorder consisting of multiple projections of bone capped by cartilage, which are called exostoses. Spinal cord compression due to expansion of a laminar osteochondroma is rare but well recognized. Surgical decompression usually improves the patient's neurological status but, in cervical exostosis, post-laminectomy kyphosis and instability problems, especially in the high-risk adolescent group, form the most significant potential difficulties in the postoperative period. We report a case of cervical laminar exostosis that was treated by anterior stabilization and fusion and discuss the benefits of this technique.

Adolescent↗
PubMed2005

An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas.

Hereditary multiple osteochondromas (MO) is an autosomal dominant bone disorder characterized by the presence of bony outgrowths (osteochondromas or exostoses) on the long bones. MO is caused by mutations in the EXT1 or EXT2 genes, which encode glycosyltransferases implicated in heparan sulfate biosynthesis. Standard mutation analysis performed by sequencing analysis of all coding exons of the EXT1 and EXT2 genes reveals a mutation in approximately 80% of the MO patients. We have now optimized and validated a denaturing high-performance liquid chromatography (DHPLC)-based protocol for screening of all EXT1- and EXT2-coding exons in a set of 49 MO patients with an EXT1 or EXT2 mutation. Under the optimized DHPLC conditions, all mutations were detected. These include 20 previously described mutations and 29 new mutations - 20 new EXT1 and nine new EXT2 mutations. The protocol described here, therefore, provides a sensitive and cost-sparing alternative for direct sequencing analysis of the MO-causing genes.

Chromatography, High Pressure Liquid↗