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Manifestations of hereditary multiple exostoses.

The solitary osteochondroma, a common pediatric bone tumor, is a cartilage-capped exostosis. Hereditary multiple exostosis is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Linkage analysis has implicated mutations in the EXT gene family, resulting in an error in the regulation of normal chondrocyte proliferation and maturation that leads to abnormal bone growth. Although exostoses are benign lesions, they are often associated with characteristic progressive skeletal deformities and may cause clinical symptoms. The most common deformities include short stature, limb-length discrepancies, valgus deformities of the knee and ankle, asymmetry of the pectoral and pelvic girdles, bowing of the radius with ulnar deviation of the wrist, and subluxation of the radiocapitellar joint. For certain deformities, surgery can prevent progression and provide correction. Patients with hereditary multiple exostosis have a slight risk of sarcomatous transformation of the cartilaginous portion of the exostosis.

Ankle↗
PubMed1995

Hereditary multiple exostoses and cervical ventral protuberance causing dysphagia. A case report.

STUDY DESIGN: A case report of a patient with hereditary multiple exostosis and who presented with cervical ventral protuberance causing dysphagia. OBJECTIVES: To present this rare situation and to discuss the treatment and the result obtained. SUMMARY OF BACKGROUND DATA: We found in the literature only one case of exostosis of the cervical spine causing dysphagia. METHODS: The patient, a 16-year-old girl, was affected by hereditary multiple exostosis, as was her father. The diagnosis was confirmed by radiograph, computed tomography, and magnetic resonance imaging, which showed a tumor in the anterior arch of the atlas. The patient was submitted to a transoral approach, and the tumor was excised. RESULTS: The patient had a good evolution 2 years after the surgery without sign of recurrence. CONCLUSIONS: This was a very rare situation, and the result validated the treatment used.

Adolescent↗
PubMed2006

Spinal cord compression in a patient with multiple hereditary exostoses caused by breast adenocarcinoma metastatic to osteochondromas of the spine: case report.

STUDY DESIGN: Case report. OBJECTIVE: To report on thoracic spinal cord compression caused by a mass in a 66-year-old female with new onset of myelopathic symptoms and a history of multiple hereditary exostoses. SUMMARY OF BACKGROUND DATA: To our knowledge, there have been no previous reports of spinal cord compression in a patient with multiple hereditary exostoses caused by breast adenocarcinoma metastatic to osteochondromas of the spine. METHODS.: Chart, pathologic, and radiographic documentation of the preoperative and postoperative clinical course of the patient was used. RESULTS: The patient had resolution of her neurologic symptoms following wide surgical excision, decompression, and stabilization from T2 to T10. The patient's mass was found to be breast adenocarcinoma metastatic to osteochondromas of the spine. CONCLUSIONS: When faced with a patient with a history of multiple hereditary exostoses with new onset of myelopathic symptoms and a mass compressing the spinal cord, the clinician's differential should be broad and always initially include a metastatic lesion, osteochondroma, or chondrosarcoma.

Adenocarcinoma↗
PubMed1992

Spastic disorder in patients with hereditary multiple exostoses, but without spinal cord compression: a new syndrome?

We describe a 37 year old man with a history of a gait disorder which had been worsening over a period of three years. Clinical examination showed the typical signs of a spastic tetraparesis with increased tone of all the extremities. Sensation, autonomic and cerebellar functions were not disturbed. Multiple exostoses had been present since early childhood, but none had been found in the spine or the cranium to cause the tetraspastic disorder. MRI scan was normal. Pedigree analysis of four generations showed that other family members were affected by both disorders. Chromosomal analysis was normal. We consider this to be a previously unknown hereditary syndrome transmitted as an autosomal dominant and manifesting a combination of spastic tetraparesis and multiple exostoses.

Adult↗
PubMed1995

Knee deformities in multiple hereditary exostoses. A longitudinal radiographic study.

For a mean period of 7.8 years, the morphology of knee deformity and its annual changes in 8 patients (16 knees; mean age at the initial examination, 8.4 years) with multiple hereditary exostoses were evaluated radiographically. Knee deformity developed during the growth spurt period. Genu valgum with a femorotibial angle that decreased more than 2 standard deviations from the mean of age-matched normal children was observed in 6 of the 16 knees. In 3 of these 6 knees, recurrent dislocation of the patella was observed. Angulation of the femur varied among the knees, but the tibia showed valgus angulation in the proximal metaphysis in all knees. Thus, knee deformity in patients with multiple hereditary exostoses was primarily genu valgum caused by valgus angulation of the tibia.

Child↗
PubMed1998

A distamycin A-inducible fragile site, FRA8E, located in the region of the hereditary multiple exostoses gene, is not involved in HPV16 DNA integration and amplification.

The rare fragile site is a specific point on a chromosome that is expressed as an isochromatid gap or break under certain conditions of cell culture and is inherited in a Mendelian codominant fashion. Five folate-sensitive fragile sites were cloned, and the molecular basis of fragile site mutation was shown to be a new class of mutation, called dynamic mutation, resulting from an allelic expansion of (CCG)n repeats. The mechanism responsible for other types of rare fragile sites, i.e., distamycin A-inducible and BrdU-requiring, is unknown, although cytogenetic studies suggested that these fragile sites play a mechanistic role in breakage and recombination and may also be integration and modification sites of foreign viral DNA genomes. A distamycin A-inducible fragile site, FRA8E, is mapped to 8q24.1 in which various loci implicated in genomic instability are located. Here we identified a YAC clone spanning both FRA8E and the hereditary multiple exostosis (EXT1) gene, using fluorescence in situ hybridization (FISH) analysis of a yeast artificial chromosome (YAC) contig. By using P1 clones as probes, the FRA8E locus was further localized to a 400-kb region including the EXT1 gene. Furthermore, the integration and amplification site of human papillomavirus 16 DNA in the ASCC (argyrophil small cell carcinoma) cells were shown not to coincide with FRA8E, but to be involved in an extensively broad genomic region of 8q24.1, including the c-myc gene.

Chromosome Fragile Sites↗
PubMed1991

Case report 658: Chondrosarcoma of the proximal phalanx of right fourth finger secondary to multiple hereditary exostoses (MHE).

A case of grade 1 chondrosarcoma of the phalanx of a finger complicating MHE is presented. Although the cytological features did not include anaplasia, other histological features, the presence of MHE, and recurrence of the tumor after local excision aided in making the correct diagnosis. This case emphasizes the importance of correlating the histological features with the radiological and clinical findings of all bone tumors, and especially cartilaginous lesions.

Adult↗