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PubMedDate not supplied

Canine multiple cartilaginous exostoses: unusual manifestations and a review of the literature.

Multiple cartilaginous exostoses were diagnosed in a two-year-old Great Dane and a four-month-old border collie. Clinically, the Great Dane showed only mild discomfort, while the border collie exhibited tetraparesis due to cervicothoracic compression. Unusual features in the Great Dane were exostoses that bridged physes, with progression after skeletal maturity. The border collie puppy's exostoses resembled tumoral calcinosis radiographically. Limb exostoses in this puppy often were para-articular, and most were not attached to the underlying bone. These features resembled metachondromatosis in humans. Analysis of previously reported cases of multiple cartilaginous exostoses indicated that the prognosis is guarded to poor.

Animals↗
PubMed1989

[Multiple cartilaginous exostoses].

Multiple cartilaginous exostosis (MKE) is an autosomally dominant hereditary disease with great individual expression. The disease becomes apparent most frequently at the age of 2-5 years and approximately 80% of the cases have been diagnosed before the age of ten years. The exostoses continue to grow until shortly after puberty. The exostoses may give rise to severe deformation of the skeleton particularly around the knee, ankle and wrist joints. Reduction of joint mobility is frequently observed either on account of the size of the exostoses and their localization or on account of the joint deformity. Treatment of MKE is surgical and corrective surgery with removal of symptom-producing exostoses is the commonest intervention. Osteotomies or introduction of joint-prostheses may prove necessary in cases with the severest joint deformities. The exostoses may undergo malignant transformation, most frequently to chondrosarcomata which grow relatively slowly and metastasize late. Treatment of these must be undertaken in a tumour centre where limb-saving tumour surgery is available in cooperation between the orthopaedic surgeon and the oncologist. Families with MKE should be given patho-genetic advice.

Adult↗
PubMed1986

The relationship between auditory exostoses and cold water: a latitudinal analysis.

The frequency of auditory exostoses was examined by latitude. It was found that discrete bony lesions of the external auditory canal were, with very few exceptions, either absent or in very low frequency (less than 3.0%) in 0-30 degrees N and S latitudes and above 45 degrees N. The highest frequencies of auditory exostoses were found in the middle latitudes (30-45 degrees N and S) among populations who exploit either marine or fresh water resources. Clinical and experimental data are discussed, and these data are found to support strongly the hypothesis that there is a causative relationship between the formation of auditory exostoses and exploitation of resources in cold water, particularly through diving. It is therefore suggested that since auditory exostoses are behavioral rather than genetic in etiology, they should not be included in estimates of population distance based on nonmetric variables.

California↗
PubMed1979

Exostoses induced by 224Ra (ThX) in children.

Exostoses are benign cartilaginous tumors of bone. They can occur naturally or be induced by radiation therapy during the time of skeletal growth. We have observed exostoses in 28 of 218 children given repeated injections of radioactive bone-seeking 224Ra. The younger the age at irradiation, the higher the incidence of exostoses. Boys are more susceptible than girls. To our knowledge, none of these radiation-induced exostoses have become malignant, although 36 of these children have developed bone sarcomas elsewhere in the skeleton.

Adolescent↗
PubMed2001

Hereditary multiple exostoses: from genetics to clinical syndrome and complications.

OBJECTIVE: To give an overview of genetic, clinical and radiological aspects in two families over four generations with known hereditary multiple exostoses (HME). METHODS AND MATERIAL: After linkage analysis in both families to localize the defective gene, mutation analysis was performed in these genes to identify the underlying mutation. In the 31 affected individuals, location, number and morphology and evolution of exostosis, evolution of remodeling defects at the metaphysis, and the extent of possible complications were evaluated on clinical and imaging (plain radiography, computed tomography (CT), and magnetic resonance imaging (MRI)) data over a lifetime period. RESULTS AND CONCLUSIONS: Both families demonstrate the gene defect in the same EXT-2 gene locus on chromosome 11p. Exostoses are preferentially located in the lower extremity (hip, knee and lower leg), humerus, and forearm. Any other bone may be involved, except for the calvaria of the skull and the mandible. Exostoses are rather sessile than pedunculated. Exostosis is rarely present at birth but develops gradually and may persist to grow slowly after closure of the growth plates. Preferential expression of the remodeling defect was seen in the hip, distal femur (trumpet-shaped metaphysis) and forearm (shortening of the ulna with secondary bowing of the radius and development of a pseudo-Madelung deformity). These radiological manifestations start at the age of 4-5 years and become more obvious as the enchondral bone formation progresses with age. Reported complications in these families consist of local entrapment phenomenons (vessel, tendon, nerve), frictional bursitis, and sarcomatous transformation. MRI was able to suggest these complications and is the imaging technique of choice in the evaluation of symptomatic exostoses.

Chromosome Mapping↗
PubMed1993

Clinical otosclerosis and auditory exostoses in ancient Europeans (investigation of Lithuanian paleoosteological samples).

The purpose of this investigation was to establish the incidence of clinical otosclerosis and auditory exostoses in Lithuanian paleopopulations. The total sample consists of 4080 skulls, dating from the Neolithic to the C17th-C18th A.D., investigated visually, under magnification and radiologically. Eight cases of clinical otosclerosis and 22 of auditory exostoses were identified. The general epidemiology of otosclerosis (0.19 +/- 0.08 per cent) was established to be similar to contemporary populations. This suggests that there are no new aetiological factors attributable to our modern society. Clear diminution of the incidence of auditory exostoses from the 1st to the 2nd millenium A.D. (3.46 +/- 0.76 per cent, against 0.06 +/- 0.04 per cent, p < 0.001) and definite sexual differences (males: 1.21 +/- 0.28 per cent; females: 0.17 +/- 0.10 per cent, p < 0.001) were also noted. In general, auditory exostoses were found much more frequently than in recent populations.

Ear Diseases↗
PubMed1998

The prevalence of exostoses in the external auditory meatus of surfers.

Fifty-four surfers and 38 surf life savers were examined and questioned in order to determine the prevalence of exostoses. Seventy-three per cent had evidence of body exostoses in the external auditory meatus. Forty per cent had their ear canals narrowed by 50% or more. The relationship between the number of years spent surfing or life saving and the extent of canal stenosis was highly significant (P < 0.00001). Left and right ears were affected equally in this series and the obstruction appears to begin after approximately 7 years and is further aggravated by continued surfing. Over 90% of subjects who had participated for longer than 10 years had some evidence of exostoses. There was no significant association between the number of days per year or the number of hours per day spent surfing and the development of surfer's ear in this sample. Those who participated in their water sport over winter had significantly more exostoses than those who did not (P < 0.0001). Those who lived in the South Island (colder water) had more surfer's ear than those in the North Island (warmer water).

Adolescent↗
PubMed2000

Buccal alveolar exostoses: prevalence, characteristics, and evidence for buttressing bone formation.

BACKGROUND: Buttressing bone formation has been described as the development of thickened or exostotic buccal alveolar bone in response to heavy occlusal forces. Little supporting evidence for this model has been found in previous literature, however, and there is little seen on the prevalence or characteristics of buccal alveolar exostoses. METHODS: A sample of 416 selected teeth and investing bone in 52 modern skeletal specimens at the National Museum of Natural History were examined. Two measures of heavy occlusal function--periodontal ligament (PDL) width and occlusal attrition--were analyzed for their relationship to three parameters of buccal alveolar bone (exostoses, lipping, and overall thickness). RESULTS: Buccal alveolar bone enlargements were found in 25% of all teeth examined: 18% were expressed as marginal bony lippings and 7% as buccal exostoses. Exostoses were mainly seen around maxillary molars and bicuspids, especially in males, while lippings were seen in molars, bicuspids, and mandibular incisors, with even gender distribution. When findings were controlled for arch and tooth type, no significant correlations were found between wider PDL spaces or occlusal attrition and exostotic, lipped, or thicker alveolar bone. CONCLUSIONS: These results indicate a lack of anatomic evidence for the theory of buttressing bone formation and suggest that other factors may be of greater importance in the etiology of buccal bone enlargements. Incidentally, no correlation was found between widened PDL spaces or severe occlusal attrition and the presence of cervical loss of tooth structure, which casts doubt on the currently popular concept of abfraction.

Adult↗
PubMed1989

[A combination of multiple cartilaginous exostoses and enchondromatosis of bone in a family].

Four cases of multiple cartilaginous exostoses in a family (mother and three children) are described. In two children the exostoses are combined with enchondromatosis of the large tubular bones. At some phalanges of these children the changes show the roentgenologic signs of solitary enchondromas and ecchondromas and in one of the cases with cartilaginous exostoses osteochondroma-like changes were found. The combination of the described symptoms seems to indicate a close relationship between enchondromatosis and the cartilaginous exostoses, as well as between these chondrodysplasias and the cartilaginous tumours.

Adult↗
PubMed1987

Experimental lathyrism: exostoses and aneurysmal-like bone cysts of the mandible in the rat.

The effect of chronic lathyrism on the mandible of the rat was studied. Exostoses, thinning and discoloration of the cortical plates, intraosseous bleeding and hemorrhagic cyst were observed after six weeks of administration of beta-aminoproprionitrile fumarate. The exostoses consisted of homogeneous cellular fibrous tissue containing osteoid, hyalin-like material and abundant ground substance. The cysts were filled with erythrocytes and lined by spindle-shaped fibroblasts, collagen fibers or osteoblast-like cells. Between the cysts, bands and sheets of dense and cellular connective tissue presenting foci of hemorrhage, osteoid and metaplastic cartilage were found. Numerous mast cells were demonstrated with alcian and toluidine blue in the hematopoietic bone marrow, cancellous bone and around the capillary network surrounding the exostoses and cysts. Exostoses have already been studied and explained by the action of BAPN (lysyl oxidase). Hemorrhagic cysts could be explained by histamine release from the mast cells (hypervascularity, hyperemia, increased permeability, rupture and progressive confluence of these small hemorrhagic cysts). Histopathology of the experimental cysts had some points in common with the human aneurysmal bone cyst. Could the pathogenic mechanisms be similar for both lesions?

Aminopropionitrile↗
PubMed1986

Subacromial impingement syndrome in hereditary multiple exostoses.

An unusual cause of subacromial pain was observed in a 32-year-old woman with multiple exostoses. The pain was the direct result of the mechanical impingement syndrome from these exostoses. Hereditary multiple exostoses should be investigated systematically, because many other, more common pain-producing conditions are possible. Secondary malignant degeneration of one of the cartilaginous coverings of the exostoses is very rare.

Acromion↗
PubMed1984

Hereditary multiple exostoses. Report of a family.

In a family with hereditary multiple exostoses (diaphyseal aclasis), six generations are known to have been affected. Thirty-three of 85 family members have had the disorder. This condition affects the long bones, pelvis, scapulae, and ribs, and the exostoses continue to enlarge until epiphyseal fusion occurs. Associated deformities, including short stature and malformations of the wrist and ankle, were found in 72%. Fifty percent of affected individuals were moderately or severely handicapped; women and men were affected with equal severity. Exostoses were usually noted by two years and always by five years of age. Hereditary multiple exostoses is inherited as an autosomal dominant condition and is inherited as an autosomal dominant condition and in this familial study the gene showed 93% penetrance. Only one individual appeared clinically normal but nevertheless transmitted the gene to offspring. Red cell antigens, enzymes, and serum enzymes were studied, but none were positive for linkage to the gene for this disease. The frequency of sarcomatous change varies between 3% and 25% in reports in the literature, but no cases occurred in six generations of this family.

Adolescent↗
PubMed1983

Interstitial deletion of 8q. Occurrence in a patient with multiple exostoses and unusual facies.

A patient with multiple exostoses, mental retardation, and unusual facies has an interstitial deletion of the long arm of chromosome 8, or 46,XX, del (8) (pter leads to q22::q24.1 leads to qter). She has some features of the Langer-Giedion syndrome, but her facies are not characteristic and she does not have cone-shaped phalangeal epiphyses. Of the eight previous reports of partial deletion of the long arm of chromosome 8, four patients had exostoses and unusual facies, three of whom had characteristics of the Langer-Gieldion syndrome. The deleted segments in the patients with exostoses are not identical, although there are areas of deletion that are seen in more than one patient. Among the explanations of the relationship of the 8q deletions to exostoses is the presence of several loci on 8q that are involved in bone formation, the deletion of any of which may give rise to a similar skeletal defect.

Adolescent↗
PubMed1984

Correlative radiographic, scintigraphic, and histological evaluation of exostoses.

We reviewed the cases of twenty-four patients with solitary or multiple exostoses to correlate their radiographic, scintigraphic, and histological evaluations. We studied twenty-five excised lesions, two of them exostotic chondrosarcomas, from twenty-two patients. There were two patterns of bone-scan activity and there was a direct correlation between enchondral bone formation and radionuclide uptake in all patients, both skeletally immature and mature. So-called quiescent lesions--those with inactive scans--were those that lacked histological evidence of enchondral bone formation. Those with increased uptake--active exostoses--all demonstrated active formation of enchondral bone. Evidence of active exostotic growth could be demonstrated on bone scans well beyond the time of skeletal maturity. The bone scan did not qualitatively differentiate the benign active exostoses from the two lesions with malignant degeneration. Increased uptake related to enchondral bone formation was a feature of both. An inactive scan, however, seemed to exclude the possibility of malignant degeneration in the exostosis.

Adult↗
PubMed1996

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

Individuals with deletions of the proximal portion of the short arm of chromosome 11 share many manifestations including mental retardation, biparietal foramina, minor facial anomalies, and multiple cartilaginous exostoses. The finding of multiple exostoses in these patients is remarkable as the disorder hereditary multiple exostoses, which is inherited in an autosomal dominant manner, has recently been mapped by linkage to three regions, including proximal 11p. We report the clinical and molecular findings in an additional patient with an 11(p11.2p12) deletion. Cytogenetic and molecular analysis demonstrated a de novo, paternally derived deletion for markers which have been shown to be tightly linked to the 11p locus (EXT2). These data support the location of EXT2 within this region and also provide information regarding the ordering of polymorphic markers on 11p. Deletion 11(p11.2p12) is a rare, yet specific, deletion syndrome involving the EXT2 locus, a gene for parietal foramina, and a mental retardation locus, and therefore can be classified as a contiguous gene deletion syndrome.

Child↗
PubMed2000

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.

Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of exostoses, which are cartilage-capped bony protuberances mainly located on long bones. Two genes, EXT1 and EXT2, and at least one other unidentified gene, are known to be involved in the formation of exostoses. To date, 49 different EXT1 and 25 different EXT2 mutations have been found in EXT patients, and there is evidence that mutations in these two genes are responsible for over 70% of the EXT cases. Among the 49 EXT1 mutations there are 9 nonsense, 21 frameshift, and 5 splice site mutations; 2 in-frame deletions of 1 and 5 amino acids respectively; and 12 missense mutations. For EXT2, 8 nonsense, 11 frameshift, 3 splice site and 3 missense mutations are described. The majority of these mutations are mutations causing loss of function, which is consistent with the presumed tumor suppressor function of the EXT genes.

Exostoses, Multiple Hereditary↗
PubMed2000

Multiple peripheral nerve compressions related to malignantly transformed hereditary multiple exostoses.

Autosomal dominantly transmitted hereditary multiple exostoses is an uncommon disorder consisting of multiple projections of bone capped by cartilage. The lesions are most numerous in the metaphyses of long bones but may appear on flat bones. Sarcomatous transformation occurs in 1-25% of patients. We report a 33-year-old man with sciatica, previously diagnosed as hereditary multiple exostoses, presenting with multiple peripheral nerve compressions. Electrodiagnostic studies showed profound axon-loss multiple neuropathies involving the sciatic, superior gluteal, and inferior gluteal nerves. Magnetic resonance imaging of the left pelvis showed a large mass in the sacral area that was suggestive of a chondrosarcoma. An open intralesional excision biopsy confirmed chondrosarcoma transformed from chondromatosis. Excision of the lesion was effective in eliminating the impingement of nerves and retarding progressive osseous growth. We suggest that malignant transformation be suspected in cases with focal compression neuropathy of patients known to have multiple exostoses. Osteochondroma as a possible cause for compression neuropathy is discussed.

Adult↗
PubMed1984

Multiple exostotic hypochondroplasia: syndrome of combined hypochondroplasia and multiple exostoses.

This is a report of a family with major focus on the daughter who was of short stature. The mother had hypochondroplasia and the father had multiple exostoses. The daughter's skeletal roentgenograms show features of both hypochondroplasia and multiple exostoses. The roentgenographic, clinical and genetic aspects of these skeletal dysplasias are reviewed and hypochondroplasia is contrasted with achondroplasia. The genetic and counseling implications of the association of hypochondroplasia and multiple exostoses are discussed.

Child, Preschool↗