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At least 19 recordsLinked to original sources
PubMed1990

Radiographic findings in hereditary multiple exostoses and a new theory of the pathogenesis of exostoses.

Analysis of 330 exostoses in 18 patients affected by hereditary multiple exostoses disease suggested a new classification of exostoses as eccentric or full-thickness. Radiographically arrest of metaphyseal remodeling with failure of coning and persistence of the primary metaphyseal trabeculae was evident in full-thickness exostoses. Similar bone lesions can be obtained experimentally with inhibitors of bone turn-over. A localized, peripheral defect in remodeling over a limited time can give a satisfactory explanation also for the origin of eccentric exostoses. The thesis that this is the basic mechanism of exostosis formation is presented.

Adolescent↗
PubMed1991

[Costal exostoses, complicated in the neonatal period, by brachial plexus paralysis. A distinct entity of exostoses?].

Two highly unusual cases of brachial plexus palsy due to compression by exostosis of the first rib in the neonatal period are reported. Etiologic diagnosis in these patients required elimination of other tumors of the first rib, including multiple exostoses. The contradictions found lead the authors to suggest individualization of a form of multiple exostoses different from classical multiple exostoses by a number of features including growth, complications, and inheritance. At present, it is not known whether this new entity carries the same risk of malignant transformation as classical multiple exostoses.

Bone Neoplasms↗
PubMed2000

Buccal and palatal exostoses: prevalence and concurrence with tori.

OBJECTIVES: The aims of this study were to investigate the prevalence and location of oral exostoses and the concurrence of buccal and palatal exostoses with tori. STUDY DESIGN: With clinical inspection and palpation, 960 Thais were examined for the presence or absence of torus palatinus (TP), torus mandibularis (TM), and exostoses. RESULTS: Of the 960 subjects studied, 26.9% exhibited exostoses. Exostoses were more common in the maxilla than in the mandible (5.1:1). In addition, most of the exostoses were located on the buccal aspect of the jaws. The prevalence of exostoses increased with age (P = .000). Exostoses were significantly more common in men than in women (62.4% vs 37.6%, P =.000). Exostoses were concurrent with TM more frequently than with TP (36.2% vs 20.6%). The highest concurrence of exostoses with tori was observed in subjects who had both TP and TM (42.6%). CONCLUSIONS: The occurrence of exostoses is related to increasing age. TM and exostoses may share the same causative factors, and functional influences may contribute. Our findings lend support to the hypothesis that the etiology of exostoses involves an interplay of multifactorial genetic and environmental factors.

Adolescent↗
PubMed2005

Spinal exostoses: analysis of twelve cases and review of the literature.

STUDY DESIGN: Retrospective review of spinal exostoses treated at our institution and literature review. OBJECTIVES: Review of 12 cases of spinal exostoses treated at our institution compared with 165 cases of spinal exostoses reported in the literature. SUMMARY OF BACKGROUND DATA: Spinal exostoses are uncommon. Most reports consist of 1 to 3 cases. The relationship between solitary exostoses and those associated with multiple hereditary exostoses (MHE), as well as the incidence of intraspinal and extraspinal location, symptoms presentation, and results of treatment are unclear. METHODS: The medical records, operative reports, and diagnostic imaging of 12 patients with spinal exostoses treated at our institution between 1972 and 2002 were reviewed. The literature was reviewed using MEDLINE search of English literature and bibliographies of published manuscripts. RESULTS: Solitary spinal exostoses were more common than those associated with MHE. Lesions were most common in the upper cervical spine and originated from the posterior elements. Patients with exostoses associated with MHE were significantly younger and had a higher incidence of symptoms consistent with neural structure compression than patients with solitary exostoses. Complete excision resulted in resolution of preoperative symptoms. Intralesional excision resulted in recurrence in all cases. CONCLUSIONS: Spinal exostoses are more common than reported previously. Patients with MHE that present with back pain or neurological symptoms should produce a high index of suspicion. Evaluation should include both computed tomography and magnetic resonance imaging to define the origin of the exostosis and the presence of neural structure compression. Surgical excision should be preformed en bloc.

Adolescent↗
PubMed1998

Concurrence of torus palatinus with palatal and buccal exostoses: case report and review of the literature.

Exostoses, also known as hyperostoses, are localized bony protuberances that arise from the cortical plate. These developmental anomalies, or hamartomas, frequently affect the skeletal jaw. Different types of exostoses have been described. Torus palatinus and torus mandibularis are two of the most common intraoral exostoses. Other types of exostoses, affecting the palatal aspect of the maxilla (palatal exostoses) or the buccal aspects of the jaws (buccal exostoses), are less commonly encountered. Concurrence of different forms of exostoses in the same individual is very rare. A 48-year-old woman manifesting excessive palatal exostoses, torus palatinus, and buccal exostoses is described. We present the clinical and histopathologic features and applied therapy and provide a comprehensive review of the current features of exostoses.

Alveolar Process↗
PubMed2002

The role of occlusal stress and gingival infection in the formation of exostoses on mandible and maxilla from Neolithic China.

Exostoses on the mandible and maxilla is a frequently observed bone growth of controversial aetiology. The aim of this study is to analyse environmental factors that may stimulate the formation of exostoses on different regions of the maxilla and mandible. Sixty-six well-preserved crania from Neolithic China were studied for the presence of buccal exostoses on the maxilla (BE) and lingual exostoses on the mandible (LME). Other oral health indicators, such as occlusal wear on molars, pathology of temporomandibular joint (TMJ), carious lesions, calculus accretion, periodontal disease, and antemortem tooth loss were recorded. Buccal maxillary exostosis was unusually common on the Neolithic skulls from China, which thus resemble the Sinantropus crania described by Weidenreich (1943). We report a significant Spearman correlation between BE and LME (rho = 0.54, P < 0.00001), suggesting a partially shared aetiology of these two types of exostoses. The highest correlations between either form of exostoses and any oral indicator of stress were found for pathology at TMJ (rho = 0.46, P < 0.0001 for both types of exostoses). Smaller but significant correlations were observed between LME and the age adjusted wear rate on lower molars, as well as between BE and indicators of oral/dental pathology, e.g. caries, calculus, periodontoses, and antemortem tooth loss. Both types of exostoses tended to increase in frequency with age, although a significant trend was observed only for BE. We conclude that formation of exostoses is a complex process that can be invoked by any agent causing damage and inflammation of gingival tissue. However, severe occlusal stress, which is often manifested in TMJ disorder, is the main environmental factor leading to exostosis development in genetically pre-disposed individuals.

Adult↗
PubMed1999

Prevalence of external auditory canal exostoses in surfers.

OBJECTIVE: To determine (1) the prevalence of external auditory exostoses in a population of surfers and (2) the relationship between the length of time spent surfing and the prevalence, severity, and location of the exostoses. DESIGN: Cross-sectional epidemiological study. SETTING: General community. PATIENTS: Three hundred seven avid surfers (93.5% males and 6.5% females; age distributions: 11.2% were < or =20, 67.9% were 21 to 40, 17.5% were 41 to 50, and 3.3% were >50 years). MAIN OUTCOME MEASURES: Questionnaires focusing on surfing habits (number of years, geographic region, and number of days per year of surfing) were correlated with otoscopic findings. A simple grading system was devised, based on the degree of external auditory canal stenosis. Grades of normal, mild, moderate, and severe corresponded to 100%, 99% to 66%, 65% to 33%, and less than 33% effective patent surface area, respectively. RESULTS: There was a 73.5% overall prevalence of external auditory exostoses and a 19.2% overall prevalence of osteomas in the group studied. Of 441 ears with exostoses, 54.2% were mild, 23.6% were moderate, and 22.2% were severe. Of individuals who had surfed for 10 years or less, 44.7% had normal ear canals and only 6% had severely obstructed auditory canals. In comparison, in the group that had surfed for longer than 20 years, only 9.1% had normal auditory canals and 16.2% were severely affected. Of surfers with no exostoses, 61.1% had surfed for 10 years or less. In contrast, of surfers with severe exostoses, 82.4% had surfed for more than 10 years. Finally, the lesions seemed to affect all external auditory canal quadrants equally. CONCLUSION: A positive association exists between the amount of time individuals spend surfing and the presence and severity of exostoses of the external auditory canal.

Adult↗
PubMed2004

Hereditary multiple and isolated sporadic exostoses in the same kindred: identification of the causative gene (EXT2) and detection of a new mutation, nt112delAT, that distinguishes the two phenotypes.

Hereditary multiple exostoses (HME) is a well known autosomal dominant hereditary orthopedic disorder. Isolated exostoses, on the other hand, occur as sporadic events or as secondary post-traumatic sequel. The occurrence of solitary exostoses in individuals from pedigrees affected with HME may distort conclusions about carrier status and/or diagnosis. Both conditions are potentially malignant and both are associated with genetic alterations in either EXT1 or EXT2 genes. In this study, we present a seven-generation family from western Sweden consisting of 170 blood relatives, 38 of whom had multiple cartilaginous exostoses, while 8 had isolated exostoses. Linkage analysis aimed to discern one of the known EXT genes demonstrated linkage of the HME phenotype to the EXT2 gene. Subsequent mutation analysis revealed a novel mutation, nt112delAT, in this gene. All carriers of the detected mutation had multiple exostoses, indicating full penetrance. None of the pedigree members with isolated exostoses were carriers of the detected mutation. Two of the mutation carriers developed chondrosarcoma yielding a 5.2% risk of malignant development for this mutation. The detection of this mutation has enabled us to provide appropriate genetic counseling concerning this complex situation.

Aged↗
PubMedDate not supplied

Exostoses of the external auditory canal in Oregon surfers.

PURPOSE: The objectives of this study were to determine the cold water exposure necessary to produce exostoses of the external auditory canal in individuals who predominantly surf along the Oregon and/or the northern California coastline and to ascertain from surfers' otologic histories symptoms attributable to exostoses. MATERIALS AND METHODS: Free ear examinations were provided at two surf shops in northern Oregon. The ear canals were examined with an otoscope, and each surfer was given a summary score indicating the percentage of both canals that was obstructed by exostoses. Surfers were then categorized according to the number of years surfing and the number of sessions surfing per year. RESULTS: Twenty-one surfers met our criteria for analysis. The degree of ear canal obstruction significantly increased with increasing number of years surfing (P < .001) and with increasing number of sessions surfing per year (P < .01). The median summary scores were 7.5, 63.0, and 93.0 for individuals who respectively surfed between 1 and 5 years, between 6 and 15 years, and greater than 15 years. The median summary scores were 10.0 for individuals who surfed 50 sessions or less per year versus 87.5 for individuals who surfed greater than 50 sessions per year. Most surfers with exostoses had minimal complaints. Only one patient had a history of surgical treatment. CONCLUSION: Individuals who surf 5 years or less are unlikely to develop exostoses unless they are surfing greater than 50 sessions per year. Exostoses are typically a benign malady that do not require surgical therapy.

Adult↗
PubMedDate not supplied

Exostoses of the external auditory canal.

Exostosis of the external ear canal is a disease unique to man. It has been identified in prehistoric man, affecting the aborigines of the North American continent. Aural exostoses are typically firm, sessile, multinodular bony masses which arise from the tympanic ring of the bony portion of the external auditory canal. These growths develop subsequent to prolonged irritation of the canal. The large, primitive jaw of prehistoric man placed great mechanical stress on the tympanic ring. Chronic aural suppuration seen in the preantibiotic era was soon followed by exostoses. Today, prolonged contact of the external ear canal with cold sea water is the most prevalent cause (aquatic theory). As a result the disease is now essentially limited to coastal regions. In this way we have seen exostoses appear in different stages of the evolution of man as a result of mechanical, chemical and now thermal irritation. The author is an otolaryngologist in a coastal region. In examining 11,000 patients during a ten-year period, 70 cases of symptomatic exostoses of the external auditory canal were identified. The incidence of exostoses was found to be 6.36 per 1,000 patients examined for otolaryngologic disease. It is a predominantly male disease. The development of these "irritation nodules" is painless until the tenth year of aquatic exposure to irritation, when symptoms of obstruction occur. The hearing loss associated with exostoses is usually a conductive type, secondary to occlusion of the canal by impacted cerumen or acute external otitis. The results of studying the thermal characteristics of the body of water used for such aquatic activities is presented.

Adolescent↗
PubMed2000

EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses.

Hereditary multiple exostoses (HME), an autosomal skeletal disorder characterized by cartilage-capped excrescences, has been ascribed to mutations in EXT 1 and EXT 2, two tumor suppressor-related genes encoding glycosyltransferases involved in the heparan sulfate proteoglycan (HSPG) biosynthesis. Taking advantage of the availability of three different exostoses from a patient with HME harboring a premature termination codon in the EXT 1 gene, morphological, immunologic, and biochemical analyses of the samples were carried out. The cartilaginous exostosis, when compared with control cartilage, exhibited alterations in the distribution and morphology of chondrocytes with abundant bundles of actin filaments indicative of cytoskeletal defects. Chondrocytes in the exostosis were surrounded by an extracellular matrix containing abnormally high amounts of collagen type X. The unexpected presence of collagen type I unevenly distributed in the cartilage matrix further suggested that some of the hypertrophic chondrocytes detected in the cartilaginous caps of the exostoses underwent accelerated differentiation. The two mineralized exostoses presented lamellar bone arrangement undergoing intense remodeling as evidenced by the presence of numerous reversal lines. The increased electrophoretic mobility of chondroitin sulfate and dermatan sulfate proteoglycans (PGs) extracted from the two bony exostoses was ascribed to an absence of the decorin core protein. Altogether, these data indicate that EXT mutations might induce a defective endochondral ossification process in exostoses by altering actin distribution and chondrocyte differentiation and by promoting primary calcification through decorin removal.

Adolescent↗
PubMed2004

Exostoses of the caudal perimeter of the radial physis as a cause of carpal synovial sheath tenosynovitis and lameness in horses: 10 cases (1999-2003).

OBJECTIVE: To determine the clinical, radiographic, ultrasonographic, and arthroscopic findings associated with tenosynovitis of the carpal synovial sheath induced by exostoses that originate from the caudal surface of the physeal scar of the distal radius and determine the results of surgical removal of those exostoses in horses. DESIGN: Retrospective study. ANIMALS: 10 horses. PROCEDURE: Medical records of horses with effusion in the carpal synovial sheath and lameness evaluated from 1999 to 2003 were examined. RESULTS: All horses had a history of intermittent mild to moderate effusion of the carpal synovial sheath and lameness of 1 forelimb. Results of regional perineural and intrathecal anesthesia of the carpal synovial sheath confirmed that the lameness originated in the carpal synovial sheath. Radiography revealed exostoses originating from the caudal cortex of the distal radius at the level of the closed physis. Arthroscopy was performed for confirmation and removal of exostoses that penetrated the carpal synovial sheath and impinged on the deep digital flexor tendon. All horses returned to previous athletic activity. One horse had a recurrence of clinical signs 12 months after surgery, which resolved with medical treatment. CONCLUSIONS AND CLINICAL RELEVANCE: Tenosynovitis of the carpal synovial sheath and lameness were caused by impingement of exostoses of the caudal radius on the lining and contents of the carpal synovial sheath. Although the clinical signs and surgical treatment were similar to that caused by osteochondromas, these exostoses developed at the level of the closed physis of the distal radius and were not radiographically or histologically similar to osteochondromas.

Animals↗
PubMed1998

[Hereditary exostoses--presentation of a family case].

In this article we present a Norwegian family with hereditary multiple exostoses and a review of relevant literature. 21 family members were examined; ten males and six females had multiple exostoses, the youngest from six months of age. The exostoses had led to compression of nerves, disturbance of bone growth with shortening and bowing of the forearm bones, and valgus deformity of the knee and ankle. Physical function and quality of life was generally well preserved. Contrary to most reports, nearly half of the patients had allegedly noticed growth or debut of exostoses in adulthood. Almost half of the patients had had the exostoses removed surgically twice, (median value). Malignant transformation of exostoses has not been observed in the family.

Adolescent↗