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At least 199 records · Page 11Linked to original sources
PubMed1994

A gene for hereditary multiple exostoses maps to chromosome 19p.

Hereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones. Recently, a disease gene (EXT 1) has been mapped to chromosome 8q23-q24 by linkage analysis in informative families. Here, we report on the genetic mapping of a second locus (EXT 2) to the short arm of chromosome 19 by linkage to a microsatellite DNA marker at the D19S221 locus, which gives additional support to the view that EXT is a genetically heterogeneous condition.

Chromosome Mapping↗
PubMed2005

Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism.

We report a 72-year-old male patient with a 47,XYY/45,X/46,XY mosaicism associated with short stature, exostoses, type E brachydactyly, gynecomastia, cryptorchidism, mild mental retardation, and a paranoid personality and conversion disorder. Since his prevalent cell line was 47,XYY (about 75%), our patient could be karyotypically classified as a case of 47,XYY syndrome. In view of the striking similarity of the clinical features of this case and those of a XYY case previously reported by Ikegawa et al (1992), it seems reasonable to suggest that these patients are representatives of a novel syndrome with a XYY karyotype.

Aged↗
PubMed1994

Intracanalicular osteochondroma producing spinal cord compression in hereditary multiple exostoses.

Spinal cord compression is an unusual but potentially catastrophic manifestation of hereditary multiple exostoses (HMEs). Isolated, osteochondromas are usually of little significance. However, if they are located near neurologic structures, they may cause irritation due to mechanical compression. In patients with HMEs who present with neck or back pain, and particularly in those who have neurologic symptoms in the upper or lower extremities, a diagnosis of intracanalicular osteochondroma should be presumed until proven otherwise. Prompt diagnosis and surgical excision affords the best prognosis for these patients who have spinal cord compression secondary to intracanalicular osteochondroma.

Adolescent↗
PubMed1995

Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1).

A young adult female with multiple exostoses, short stature, autism, mental retardation and 46,X,t(X;8)(p22.13;q22.1) is described. Although the clinical features and translocation breakpoints raise the possibility of a number of specific conditions, the constellation of problems is not consistent with any previously reported genetic syndrome. It is argued that her clinical disorder is likely due to the chromosomal abnormality and that further detailed molecular genetic investigation may shed light on the genetic basis to various components of her phenotype including the autism.

Abnormalities, Multiple↗
PubMed1994

An association between psoriasis and hereditary multiple exostoses. A clue for the mapping of a psoriasis susceptibility gene?

Chronic plaque psoriasis affects approximately 1.6% of the U.K. population. Population, family and twin studies all strongly suggest an important genetic component in the pathogenesis of the disease, although genetic linkage studies have, so far, failed to identify susceptibility genes. We describe a family in which psoriasis cosegregates through three generations with a known autosomal dominant disorder, hereditary multiple exostoses (HME). A major locus for HME has recently been mapped to chromosome 8q. Observations in this family may provide a mapping clue for a psoriasis susceptibility gene.

Adult↗
PubMed1990

Subungual exostoses--clinicopathological and ultrastructural studies of three cases.

Three patients with subungual exostoses, two involving the great toe and one the fourth toe, are presented. Local excision was performed, and the specimens were processed for light and electron microscopy. Light-microscopic study revealed that the tumours consisted of a proliferative fibrocartilaginous cap that merged into mature trabecular bone at its base. Electron-microscopic examination revealed that the tumour was composed of two types of cells: one was rich in cell organelles including rough endoplasmic reticulum, well-developed Golgi apparatus, and glycogen granules; the other cell had few such cell organelles. The former cells seemed to be osteoblasts actively engaged in bone formation, and the latter to be osteocytes related to those situated deeper in bone matrix in normal bone. However, ossification or calcification in subungual exostosis is rather casual, and osteocytes in this disorder may lack the capacity to elaborate compact bone.

Adult↗
PubMed2004

Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis).

Multiple hereditary exostoses (HME) is an autosomal dominant developmental disorder exhibiting multiple osteocartilaginous bone tumors that generally arise near the ends of growing long bones. Here, we report two large consanguineous families from Pakistan, who display the typical features of HME. Affected individuals also show a previously unreported feature--bilateral overriding of single toes. Analysis using microsatellite markers for each of the known EXT loci, EXT1, EXT2, and EXT3 showed linkage to EXT1. In the first family, mutation analysis of the EXT1 gene revealed that affected individuals were heterozygous for an in-frame G-to-C transversion at the conserved splice donor site in intron 1. This mutation is predicted to disrupt splicing of the first intron and produce a frameshift that leads to a premature termination codon. In the second family, an insertion of an A in exon 8 is predicted to produce a frameshift at codon 555 followed by a premature termination, a further 10 codons downstream. In both families, an increased number of affected male subjects were observed. In affected females in family 2, phenotypic variability and incomplete penetrance were noted.

Base Sequence↗
PubMed2002

Intermediate grade osteosarcoma and chondrosarcoma arising in an osteochondroma. A case report of a patient with hereditary multiple exostoses.

A 40 year old man with hereditary multiple exostoses (HME), affecting predominantly his left proximal tibia, distal femur, and proximal femur, underwent resection of an osteochondroma near the trochanter major of his left proximal femur because of malignant transformation of the cartilaginous cap towards secondary peripheral chondrosarcoma. The patient had a history of a papillary thyroid carcinoma four years previously. At examination of the resected specimen, a third malignant tumour, an intermediate grade osteosarcoma (grade II/IV), was found in the osseous stalk of the osteochondroma. Although no mutations were found in the EXT1 and EXT2 genes, the genes involved in HME, or in exons 5-8 of the p53 gene, the development of three malignancies before the age of 40 suggests that this patient is genetically prone to malignant transformation.

Adult↗
PubMedDate not supplied

Osteomas and exostoses of the external auditory canal. A clinical, histopathologic and scanning electron microscopic study.

Osteomas of the external auditory canal are considered clinically to be discrete, pedunculated bone lesions arising along the tympanosquamous suture. They are benign lesions but often are slowly progressive in size. Exostoses of the external auditory canal are broad-based elevations of bone usually multiple and bilaterally symmetric, involving the tympanic bone. It appears that both clinical and histopathologic evidence is sufficient to justify the impression that these two lesions should be considered separate entities and clinical diagnostic and histopathologic criteria have been suggested for diagnosis of these lesions.

Adolescent↗
PubMed2000

Correction of ankle valgus deformity secondary to multiple hereditary osteochondral exostoses with Ilizarov.

The following case report highlights basic aspects of Multiple Hereditary Osteochondral Exostoses (MHOCE) and discusses the successful treatment of an adult with ankle pain secondary to growth arrest and foreshortening of the fibula. Two salient features include the age of the patient at presentation and the success of the procedure. Symptomatic valgus deformities of the ankle secondary to MHOCE are normally corrected during adolescence, prior to physeal closure. Reducing the ankle mortise by distally displacing the fibula and correcting rotational and angular ankle deformities with Ilizarov external fixation improved this patient's ankle function and relieved his pain.

Adult↗
PubMed1979

Paraparesis in hereditary multiple exostoses: case report.

The authors report a case of hereditary multiple exostoses (HME) with neurologic complications, and review the literature. A 23-year-old man exhibited a worsening spastic paraparesis with sphincter dysfunction. The cranial nerves and the exteroceptive and deep sensations were apparently undamaged. The family history, the physical examination, and the systemic radiologic examination revealed all the characteristics of HME. The neurologic complication was caused by an exostosis, arising from the C2 right hemilamina, compressing the spinal cord. The patient quickly improved after a laminectomy.

Adult↗
PubMed2004

Canalplasty for severe external auditory meatus exostoses.

Exostoses of the external auditory meatus is a well known condition which infrequently requires surgical correction. However, the stenosis caused by severe exostosis can affect quality of life considerably and may require surgical intervention. Canalplasty, in such a situation, is a valid and effective management option. In our series the commonest indication for surgery was recurrent otitis externa. The detailed surgical technique is described and a retrospective analysis of 65 such procedures is presented. There were only two significant complications, both post-operative stenosis, requiring further corrective surgery. In conclusion, canalplasty for the exostosis of the external auditory meatus is a safe surgical option.

Adolescent↗
PubMed1986

Lengthening the ulna in patients with hereditary multiple exostoses.

Deformity of the forearm is common in patients with hereditary multiple exostoses, producing cosmetic and functional impairment in which shortening of the ulna is a significant factor. The results of ulnar lengthening in 10 forearms of eight patients are reported. Lengthening was performed by osteotomy of the shaft followed immediately by a bone graft and internal fixation, or by gradual distraction with an external fixator. In all patients the appearance was improved and the range of radial deviation at the wrist was increased. In most patients forearm movement and radial head stability were improved. Partial recurrence of the deformity was seen during the follow-up of skeletally immature patients, but in general ulnar lengthening was found to be a useful operation.

Adolescent↗
PubMed2001

The hip in hereditary multiple exostoses.

We defined the characteristics of dysplasia and coxa valga in hereditary multiple exostoses (HME) by radiological analysis of 24 hips in 12 patients. The degree and effect of the 'osteochondroma load' around the hip were quantified. We investigated the pathology of the labrum and the incidence of osteoarthritis and of malignant change in these patients. Coxa valga and dysplasia were common with a median neck-shaft angle of 156 degrees, a median centre-edge angle of 23 degrees and Sharp's acetabular angle of 44 degrees. There was overgrowth of the femoral neck with a significantly greater ratio of the neck/shaft diameter in HME than in the control hips (p < 0.05), as well as correlations between the proximal femoral and pelvic osteochondroma load (p < 0.05) and between the proximal femoral osteochondroma load and coxa valga (p < 0.01). Periacetabular osteochondromas are related to Sharp's angle as an index of dysplasia (p < 0.05), but not coxa valga. No correlation was found between dysplasia and coxa valga. These data suggest that HME may cause anomalies of the hip as a reflection of a generalised inherited defect, but also support the theory that osteochondromas may themselves precipitate some of the characteristic features of HME around the hip.

Adolescent↗
PubMed1997

Isolation of the mouse cDNA homologous to the human EXT1 gene responsible for Hereditary Multiple Exostoses.

We have cloned and sequenced the mouse cDNA homologous to the human Hereditary Multiple Exostoses (EXT1) gene. The mouse homolog shows 94% similarity at the nucleotide level and 99% similarity at the protein level compared to the human gene. The 5' UTRs are unusually conserved for non-coding sequences showing 94% similarity compared to 80% for the 3' UTRs. The high level of evolutionary conservation between the EXT1 proteins as well as the 5' UTR suggests that each plays an important and related role in both species.

Amino Acid Sequence↗
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↗