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Results for “EXOSTOSES, MULTIPLE”

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At least 217 records · Page 12Linked to original sources
PubMed2006

[Association multiple exostoses and ankylosing spondylitis: about one case and a review of the literature].

We report the case of a 25-years-old man who had an ankylosing spondylitis associated with multiple exostoses. The patient had hip pain of inflammatory origin and back stiffness with x-ray findings suggestive of bilaterral sacroilitis, coxitis as well as exostosis of the humerus, radius, femor and tibia. This is occurred in Turkey, the association was described as a simple concidence due to the difference in the genetic mechanisms involved. A more detailed genetic study of these two entities well be helpful for a better understanding of this association.

Adult↗
PubMed1995

[A rare complication of multiple exostoses: hemothorax].

BACKGROUND: Hemothorax is a rare complication of hereditary multiple exostosis. CASE REPORT: A 12 year-old boy suffered from abrupt thoracic pain, firstly attributed to pleural effusion. He had hereditary multiple exostosis known since the age of 9 years. The patients was given anti-inflammatory drugs and erythromycin but the pleural effusion became more abundant 6 days later requiring thoracentesis which showed hemothorax. All bacteriological and cytologic investigations were negative. X rays, ultra-sonography and CT scan showed several costal exostoses developing into the thoracic cavity. The hemothorax disappeared within 12 days and the patient was well 4 months later, without pleural sequelae. CONCLUSIONS: Hemothorax may be due to internal costal exostosis. It may be cured with thoracentesis; more aggressive therapy should be performed in exceptional cases with severe and/or recurrent bleeding.

Child↗
PubMed1995

A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).

We have constructed a physical map covering over 4 Mb of human chromosome 8q24.1 and used this map to refine the locations of the genes responsible for Langer-Giedion syndrome. The map is composed of overlapping YAC clones that were identified and ordered in relation to sequence tagged sites mapped to the Langer-Giedion chromosomal region on somatic cell hybrids. The minimal region of overlap of Langer-Giedion syndrome deletions, previously identified by analysis of 15 patients, was placed on the map by analysis of 2 patients whose deletions define the endpoints. The chromosome 8 breakpoint of a balanced t(8;9)(q24.11;q33.3) translocation from a patient with trichorhinophalangeal syndrome (TRPS I) was found to be located just within the proximal end of the minimal deletion region. A deletion of 8q24.11-q24.3 in a patient with multiple exostoses was found to overlap the distal end of the LGS deletion region, indicating that the EXT1 gene is distal to the TRPS1 gene and supporting the hypothesis that Langer-Giedion syndrome is due to loss of functional copies of both the TRPS1 and the EXT1 genes.

Animals↗
PubMed2005

[Hereditary multiple exostoses. Molecular genetic analysis of the EXT1 gene in an unusual family].

Hereditary multiple exostosis (HME), a disorder inherited in an autosomal dominant manner, is characterized by multiple projections of bone, mainly at the extremities. The risk of malignant transformation of the exostoses is estimated to be up to 2%. The most common underlying cause of the disease involves mutations in either the EXT1 or the EXT2 gene. We report on the clinical and molecular findings in a family affected with HME.A mother and her three children from different partnerships, all clinically diagnosed with HME, were referred for genetic counseling. Subsequently, molecular analysis of the EXT1 gene was performed according to standard procedures. We identified a mutation in the EXT1 gene in all four affected family members (delA in codon 133). This mutation has not been previously described and is suggested to cause the disease in this family. Identification of disease causing mutations in patients with HME and their relatives can help to improve the clinical management of tumor prevention, early tumor detection, and orthopedic therapy.

Adolescent↗
PubMed1990

[Intrathoracic chondrosarcoma arising at a rib in a patient with multiple exostoses].

A case of chondrosarcoma arising from the 7th left rib in a patient with multiple exostosis disease is reported. The initial CT scan feature is a purely intrathoracic mass with a parietal and pericardial junction and calcifications within the tumor. A review of the literature about the costal chondrosarcoma and their CT scan features is done and shows the uncommon initial aspect of this case.

Adult↗
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↗
PubMed2002

[Multiple exostoses. Review of the literature. Apropos of a case disclosed during an injury].

The authors report a case of bilateral fracture of the thigh bone that occurred in a 22 year old man with multiple exostosis. Clinical deformities, radiology and histology confirmed the diagnosis. Traumatic fractures were caused by a road accident. The treatment, because of deformities, consisted of an open fire synthesis of the both thigh bones with Küntscher's nails. The post-operative evolution was marked by rapid healing of fractures. The scarcity of this genetic affection and the symmetrical lesions have lead the authors to conduct a literature review.

Accidents, Traffic↗
PubMedDate not supplied

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↗
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↗