PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Exostoses, Multiple Hereditary”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 289 records · Page 16Linked to original sources
PubMed1997

[Subungueal exostosis of fingers in hereditary multiple exostosis. 3 cases].

INTRODUCTION: The multiple exostosis syndrome is a rare disease transmitted by autosomal dominant inheritance. Bone growth projecting outward from the long bones is observed in multiple localizations during growth. Prognosis of this benign disease is worsened by the possibility of chondrosarcoma. We report three cases of subungueal exostoses observed in children revealing hereditary exostosis. CASE REPORTS: Clinical examination evidenced progressive deformation of several fingers. In all three patients. There was subungueal tumefaction raising a fissured nail with longitudinal crests. In two cases there were also skeletal deformations. Radiograms showed multiple exostoses of the long bones in all three cases and in one a tumefaction of the scapula in addition to visualizing the subungueal exostoses. There was a family history of such manifestations in all cases. DISCUSSION: Subungueal exostosis is frequent in young adults, usually located in the large toe. These three observations were particularly interesting due to the subungueal localization during the first decade of life. Such localization are rare and usually concern several fingers.

Adolescent↗
PubMed1954

[Exostosis].

Explore the source record for details and available documents.

Bone Neoplasms↗
PubMed1989

Multiple hereditary osteochondromata.

Multiple hereditary osteochondromata is a disorder consisting of multiple projections of bone (exostoses) capped by cartilage. The lesions are most numerous in the metaphyses of long bones but may appear on diaphyses of long bones and on flat bones and vertebrae. The transmission is autosomal dominant. Sarcomatous transformation is uncommon and probably occurs in fewer than 1% of patients. The more common indications for surgical excision of lesions are pain, growth disturbance, compromised joint motion, cosmesis, and secondary impingement of tendon, nerve, or vessel. Excision of the lesions is effective in relieving pain, improving cosmesis and joint motion, and removing secondary impingement of tendon, nerve, or vessel, and may retard or prevent progressive disturbance of osseous growth. Wrist and ankle deformities are often associated with relative shortening and bowing of the ulna and fibula, respectively; tilt and tapering of the distal radial and tibial epiphyses; and distal radioulnar and tibio-fibular diastasis. These deformities can be effectively treated by ulnar and fibular lengthening combined with hemiphyseal stapling of the distal radius and tibia. Progressive genu valgum is well corrected by placement of staples over the medial side of the physis of the distal femur or proximal tibia or both.

Bone Neoplasms↗
PubMed1995

Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8.

Hereditary multiple exostosis (EXT) is an autosomal dominant disorder characterized by bony exostoses at the ends of the long bones. Linkage studies have recently suggested that there are three chromosomal locations for EXT genes, 8q24.1 (EXT1), the pericentric region of 11 (EXT2), and 19p (EXT3). As part of a larger study to determine the frequencies of the three EXT types in the United States, we have ascertained a large multigenerational family with EXT and one family member with a chondrosarcoma. This family demonstrated linkage of the disease to chromosome 11 markers. The constitutional and tumor DNAs from the affected family member were compared using short-tandem-repeat markers from chromosomes 8, 11, and 19. Loss of heterozygosity (LOH) in the tumor was observed for chromosome 8 and 11 markers, but chromosome 19 markers were intact. An apparent deletion of the marker D11S903 was observed in constitutional DNA from all affected individuals and in the tumor sample. These results indicate that the EXT2 gene maps to the region containing marker D11S903, which is flanked by markers D11S1355 and D11S1361. Additional constitutional and chondrosarcoma DNA pairs from six unrelated individuals, two of whom had EXT, were similarly analyzed. One tumor from an individual with EXT demonstrated LOH for chromosome 8 markers, and a person with a sporadic chondrosarcoma was found to have tumor-specific LOH and a homozygous deletion of chromosome 11 markers. These findings suggest that EXT genes may be tumor-suppressor genes and that the initiation of tumor development may follow a multistep model.

Chondrosarcoma↗
PubMed2006

Osteochondroma causing diaphragmatic rupture and bowel obstruction in a 14-year-old boy.

Exostosis, also known as osteochondroma, results from a disorder of the growth-plate where bone grows away from the growth axis and forms an irregular projection. This abnormality most commonly occurs around the femur, scapula, humerus, and ribs. Although hemothorax and diaphragmatic rupture are known complications of exostosis growth, we present herein the first known report of an inward-facing exostosis in a 14-year-old boy with hereditary multiple exostosis causing diaphragmatic rupture and a bowel obstruction requiring operation. Most exostoses are asymptomatic and as such require no further treatment. However, when they are threatening to cause mass effects (such as frictional bursitis, local entrapment of vessels, and tendons or nerves) or symptomatic, surgical resection is the appropriate treatment.

Adolescent↗