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At least 217 records · Page 12Linked to original sources
PubMed2000

[Two familial cases of hereditary multiple exostoses].

Hereditary multiple exostoses is an autosomal dominant disorder. Three different chromosomal loci have been implicated in this genetically heterogeneous disease. The authors describe a family in which 3 generations were affected, there were data about the disease of an already died grandmother, the father and his daughter were investigated by conventional X-ray and the disease was proved. The disease caused only minor complaints. The exostosis of the father's pelvis showed increased isotope uptake during bone scintigraphic examination, the same region exhibited malignant degeneration on MR examination. Regular check-up of the patients is necessary because of the possibility to a malignant transformation in 1-27% of the cases.

Exostoses, Multiple Hereditary↗
PubMed1975

[Spinal cord compression in multiple cartilagineous exostoses (case report)].

A 53-year-old patient with multiple cartilagineous exostoses developed narrowing of the thoracic spinal canal with compression of the cord and spastic paraplegia. The importance of radiologic examination of the whole spine as well as of the extremities is emphasized. When there is an exostosis in the spine neurologic examination disclosing cord compression should be carried out at regular intervals. If there are signs of cord compression, early decompressive laminectomy is the treatment of choice.

Arthritis↗
PubMed2000

[Multiple exostoses].

Multiple exostoses is a hereditary disease characterized by multiple osteocartilagenous tumors, of which the histological structures are similar to those of normal epiphyses. Genetic linkage has identified three different loci for this disease: EXT1 on 8q, EXT2 on 11p, and EXT3 on 19p. The EXT1 and EXT2 genes were recently isolated and mutation analyses have been performed in a number of patients with different ethnic backgrounds. The data indicate that mutations of these genes occurred in broad regions of each gene, and the loss-of-function mutations were predominant, although there were some missense mutations that may create functionally defective protein. Tumor cells were shown to be homozygous for the mutant allele, which is consistent with the concept of these genes as tumor suppressor genes. Recent progress for the functional analyses has disclosed that these genes encode the protein with glycosyltransferase activity and regulate the diffusion of Hedgehog protein, which is the key molecule for the skeletal development. Further analyses of these genes may provide us with the knowledge for the development of epiphyses, and may open the new research field for the regeneration of epiphyses.

Epiphyses↗
PubMed1999

Identification of mutation in a candidate gene for hereditary multiple exostoses type II.

OBJECTIVES: To identify possible mutations in our previously cloned candidate gene for hereditary multiple exostoses type II (EXT2) in affected members of EXT families so as to confirm that it is the disease-causing gene. METHODS: The mutation was detected first by single strand conformational polymorphism (SSCP) of all coding exons of the candidate gene and then by sequencing analysis. RESULTS: After analyzing 37 patients from 20 Chinese EXT families by SSCP and DNA sequencing analysis, one 2-bp insertion mutation was identified in this candidate gene in affected members of an EXT family. This mutation resulted in the frameshift and generated a truncated gene product consisting of 105 amino acids. CONCLUSIONS: The identification of the mutation in the candidate gene indicates that this novel gene is responsible for EXT2 (one of the disease-causing gene of EXT).

Amino Acid Sequence↗
PubMed1992

Disproportionate short stature, type E brachydactyly and exostoses of tibiae in a patient with an XYY karyotype. A 'new' syndrome?

An 18-year-old male with an XYY karyotype is reported with short stature, normal intelligence and normal personality, in contrast to the XYY syndrome which can be characterized by tall stature, mental subnormality and aggressive behaviour. The patient, in addition, had exostoses of the tibiae bilaterally and type E brachydactyly; this association has not previously been described in patients with the XYY karyotype.

Adolescent↗
PubMed2004

[Three patients with hereditary multiple exostoses and malignant degeneration of an osteochondroma located in the pelvis].

In three male patients with hereditary multiple exostoses (HME), aged 50, 29 and 31 years, peripheral low-grade chondrosarcoma in the pelvic region led to swelling or pain. In the first patient, curative resection was not feasible because of the size and extension of the tumour. However, rapid tumour growth and unbearable pain necessitated a debulking procedure 16 months later. Histopathologic examination revealed a highly malignant dedifferentiated chondrosarcoma. The patient died two years after initial presentation as a result of local tumour growth. In the second patient, treatment consisted of wide resection of the tumour. Five years after the surgery the patient was free of disease. The third patient was initially treated by intralesional resection, followed by partial hemipelvectomy because of residual tumour. Thirteen months later, a local recurrence occurred that was treated by wide excision. Four years after the partial hemipelvectomy the patient was both pain-free and disease-free. Patients with HME are at increased risk for malignant degeneration of pelvic osteochondroma to chondrosarcoma. Periodic control of patients with pelvic osteochondromas is advised, preferably once every two years.

Adult↗
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↗
PubMedDate not supplied

[Hereditary intraoral fibromas and exostoses].

The formation of exostoses of the upper and lower jaw is a frequent finding and should be treated for esthetic and functional reasons. An unusual case of severe palatal fibromas and concomitant vestibular exostosis in a 36-year-old woman is presented. Identical symptoms are found in the patient's father and her 8-year-old daughter.

Adult↗
PubMed1989

[Neurologic complications in hereditary multiple exostoses].

Based on the radiological and clinical findings in two patients suffering from hereditary multiple cartilaginous exostoses, the importance of identification and x-ray confirmation of neurological signs within the framework of the overall disease patterns is shown. This is a rare complication, bat it is highly important for the patient. Early clarification is imperative; if surgical intervention is not instituted directly, a closely meshed control network is considered mandatory to prevent severe irreversible neurological deficits.

Adult↗
PubMed1989

[Multiple exostoses disease (observations in 21 reported cases)].

With reference to 21 cases the authors describe the clinical, radiological and anatomo-pathological findings of multiple exostoses disease. The indications for the surgical treatment are discussed; they are, however, the same to the solitary osteochondroma.

Adolescent↗
PubMed1977

Vertebral compression syndrome in multiple exostoses (case report).

The authors present a case, the second in the world literature, of Spinal Compression Syndrome in Multiple Exostoses. The diagnosis, not revealed on standard radiographs of the vertebral column, was suspected on radiculography and confirmed only by oblique stratigraphic projection. These demonstrated bone formation on the right vertebral lamina of L4 encroaching considerably on the spinal canal. Surgical laminectomy was followed by complete remission of neurological symptoms.

Child↗
PubMed1978

Hereditary multiple exostoses. A rare cause of spinal cord compression.

A case of hereditary multiple exostoses (HME) with compression of the cervical cord, the cervical plexus, and the ulnar nerve is reported. Complete recovery following surgery was obtianed. Review of the literature revealed 21 previous cases of HME with cord compression. The cervical and thoracic areas are predominantly affected and the symptoms usually evolve slowly. Recovery after laminectomy is to be expected in the majority of the cases.

Adult↗
PubMed1979

[The uncus exostoses syndrome and its treatment by means of the decompression operation of the vertebral artery (author's transl)].

In degenerative changes of the mobile segments of the cervical vertebral column, deformations of the uncovertebral gaps (joints), resembling exostoses, with a lateral or dorsolateral spread, are frequently seen. This involves irritation of neighbouring structures, such as the arteria and vena vertebralis including the nervus vertebralis or the corresponding nerve roots. This produces a disease pattern with a cervico-encephalic and cervico-brachial mixed pattern of symptoms. Angiography of the a. vertebralis proves the localisation and extent of the disturbance. The decompression of the a. vertebralis according to the method described by A. Jung offers good chances of curing the disease. The author's own operative results are presented and discussed.

Adult↗
PubMed1995

Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11.

Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant condition characterized by growth of multiple benign cartilage-capped tumors. EXT greatly increases the relative risk to develop chondrosarcoma, although most chondrosarcomas are sporadic. This observation suggests that, like the genes responsible for retinoblastoma and other dominantly inherited cancer susceptibility disorders, the genes that cause EXT may have tumor-suppressor function and may play a role in the pathogenesis of the related sporadic tumors. To investigate this hypothesis, we evaluated chondrosarcomas for loss of constitutional heterozygosity (LOH) at polymorphic loci linked to three recently identified genomic regions containing genes involved in EXT. LOH for markers linked to EXT1 on chromosome 8 was detected in a chondrosarcoma that arose in a man with EXT. Four of 17 sporadic tumors showed LOH for markers linked to EXT1, and 7 showed LOH for markers linked to EXT2 on chromosome 11. In all, LOH was observed for markers linked to EXT1 or EXT2 in 44% of the 18 tumors, whereas heterozygosity was retained for markers on 19p linked to EXT3. These findings support the hypothesis that genes on 8q and the pericentromeric region of 11 have tumor-suppressor function and play a role in the development of chondrosarcomas.

Alleles↗
PubMed1995

[Multiple cartilagenous exostoses].

This is a review of aspects of hereditary multiple exostosis relevant for the orthopedic surgeon. The autosomally dominant hereditary disease with great individual expression is the result of dysplasia of the peripheral growth plate. During growth exostosis can induce severe secondary deformities and reduction of joint mobility, especially the forearm, knee and ankle. Treatment is surgical with the removal of symptom-producing exostoses the most common procedure. For corrective surgery careful preoperative planning, careful choice of treatment modality and sustained follow-up are necessary. The nearly 1% risk of malignant transformation, most frequently to low-grade chondrosarcoma, must be monitored. A rare complication is cervical cord compression.

Cell Transformation, Neoplastic↗