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At least 577 records · Page 32Linked to original sources
PubMedDate not supplied

Osteocartilaginous tumors in the parapharyngeal space arising from bone exostoses.

Three osteocartilaginous tumors that arose from bone stalks were diagnosed by the demonstration, on multiplanar cross-sectional CT and MR images, of the site of stalk attachment to the adjacent mandible (one), skull base (one), and cervical vertebra (one). All three patients presented with signs and symptoms related to mass effect in the parapharyngeal region. Mass effect was more pronounced in the two cases of malignant degeneration (osteosarcoma, chondrosarcoma) than in the single case of benign osteocartilaginous exostosis. Differentiation of benign from malignant osteocartilaginous tumor may be accomplished by appreciating characteristic CT and MR features of the cartilage cap. The differential diagnosis of mass lesions of the parapharyngeal space should include tumors of osteocartilaginous origin.

Adolescent↗
PubMedDate not supplied

Surgical risk for elective excision of benign exostoses.

The surgical risk and complication rates for the elective excision of benign osteochondromas and associated surgical procedures is presented. Eighty patients had excision of 285 osteochondromas and underwent 22 other related surgical procedures. There were 10 complications in the group (12.5% per patient population); the most common were peroneal neurapraxias. Other complications included an arterial laceration, a compartment syndrome, and a fibula fracture. The surgical risk for the management of osteochondromas is low and is comparable to the risk of other related, elective procedures. However, osteochondromas should not be routinely excised unless proper indications exist for their removal.

Blood Loss, Surgical↗
PubMed1998

[Subungual exostoses. A retrospective study of a series of 28 cases].

Subungual exostosis represents an uncommon osteocartilaginous benign proliferation with a trend towards recurrence. The authors report on a retrospective series of 28 cases of subungual exostosis of the first toe with histologic confirmation. There were 20 male and 8 female patients, with a mean age of 18 years. A history of trauma or repetitive microtrauma was noted in 21 cases. Surgical treatment was performed using the most direct approach. The tumor was widely excised and the ungual apparatus was reconstructed under optic magnification. All patients were reviewed after 14 to 96 months. Tumor recurrence was observed in 4 cases, treated secondarily with success. No malignant transformation was seen.

Adolescent↗
PubMed1988

A clinicopathologic study of bony spurs on the pes anserinus.

Nineteen cases of exostoses located on part of the pes anserinus were studied clinically and histologically. All lesions were resected during surgery between 1965 and 1985. In these 19 cases, 14 had involvement of the tibia only at the insertion of the pes anserinus. Five had multiple exostoses with pes anserinus involvement. All exostoses occurring only in pes anserinus showed an icicle appearance in roentgenography and had no detectable cartilage cap. On the other hand, exostoses in patients with multiple exostoses (osteochondromas) showed varying appearances in roentgenography and had cartilage caps on their surfaces. Exostoses occurring only in the pes anserinus may or may not be osteochondromata and could be classified as pes anserinus bony spurs.

Adolescent↗
PubMed1995

Incidence of bony outgrowths of the external ear canal in U.S. Navy divers.

Bony outgrowths of the temporal bone into the external ear canal are common in populations that participate in cold water activities. The incidence in professional divers is unknown. Eighty-seven U.S. Navy divers were interviewed and examined to determine the history of aquatic activity and degree of ear canal compromise. An age-matched control population of 42 non-divers without significant history of aquatic activities was also examined. The outgrowths, or exostoses, were found in 23 (26%) divers, and in no controls. Sixteen (70%) of the exostoses were minor, causing 10-20% narrowing of the auditory canal. The largest exostoses were found in divers with an extensive history of aquatic activities. The difference in total hours of aquatic activity was significant between divers and controls. The difference in total hours diving, as well as total time of all aquatic activities, was statistically significant between divers with exostoses and those divers without exostoses. The data confirm the relatively common incidence of this condition in a professional diving community.

Adult↗
PubMed2004

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.

UNLABELLED: Gain-of-function mutation in the gene encoding LRP5 causes high bone mass. A 59-year-old woman carrying a novel LRP5 missense mutation, Arg154Met, manifested skeletal disease affecting her oropharynx as well as dense bones, showing that exuberant LRP5 effects are not always benign. INTRODUCTION: Gain-of-function mutation (Gly171Val) of LDL receptor-related protein 5 (LRP5) was discovered in 2002 in two American kindreds with high bone mass and benign phenotypes. In 2003, however, skeletal disease was reported for individuals from the Americas and Europe carrying any of six novel LRP5 missense mutations affecting the same LRP5 protein domain. Furthermore, in 2004, we described a patient with neurologic complications from dense bones and extensive oropharyngeal exostoses caused by the Gly171Val defect. MATERIALS AND METHODS: A 59-year-old woman was referred for dense bones. Three years before, mandibular buccal and lingual exostoses (osseous "tori") were removed because of infections from food trapping between the teeth and exostoses. Maxillary buccal and palatal exostoses were asymptomatic. Radiographic skeletal survey showed marked thickening of the skull base and diaphyses of long bones (endosteal hyperostosis). BMD Z scores assessed by DXA were +8.5 and +8.7 in the total hip and L(1)-L(4) spine (both approximately 195% average control), respectively. LRP5 mutation analysis was carried out for the LRP5 domain known to cause high bone mass. RESULTS: Biochemical evaluation excluded most secondary causes of dense bones, and male-to-male transmission in her family indicated autosomal dominant inheritance. PCR amplification and sequencing of LRP5 exons 2-4 and adjacent splice sites revealed heterozygosity for a new LRP5 missense mutation, Arg154Met. CONCLUSIONS: LRP5 Arg154Met is a novel defect that changes the same first "beta-propeller" module as the eight previously reported LRP5 gain-of-function missense mutations. Arg154Met alters a region important for LRP5 antagonism by dickkopf (Dkk). Therefore, our patient's extensive oropharyngeal exostoses and endosteal hyperostosis likely reflect increased Wnt signaling and show that exuberant LRP5 effects are not always benign.

Alleles↗
PubMedDate not supplied

[Surgical treatment of exostosis in the external auditory canal].

Exostoses of the external auditory canal are benign bony tumours very common in individuals who frequently participate in aquatic activities. Although most of the cases are asymptomatic, patients with more severe exostoses have recurrent episodes of external otitis and related conductive hearing loss. In the great majority of these cases, a medical treatment (aspiration and antibiotic drops) resolves the symptoms. Patients with more severe canal stenosis, resistant to medical treatment, are candidates for surgical removal of the exostoses. This report reviews our surgical experience with 45 patients, 52 ears, who have undergone surgical removal of exostoses in our Institution during the last 13 years. We describe the technique that we use a well as the results that we achieve.

Adult↗
PubMed1991

Incidence of brachydactyly and hand exostosis in hereditary multiple exostosis.

Forty-two radiographs and charts of twenty-two patients with a diagnosis of hereditary multiple exostosis and hand involvement were examined to determine the incidence of hand exostoses and association with brachydactyly. An average of 11.6 exostoses were found per hand. The proximal phalanges and metacarpals are affected in the majority of patients and the thumb and distal phalanges are rarely involved. Most exostoses were located in the juxtaepiphyseal region (61.8%) and typically involved less than 50% of the bone diameter. Brachydactyly can be seen in patients with hereditary multiple exostosis when no exostoses is present; however, the presence of an exostosis results in even more shortening. The location and size of the exostosis had no relationship to increased bone shortening. Operative treatment was required in four of twenty-two patients for debulking and impingement.

Child↗
PubMed2002

Heparan sulfate abnormalities in exostosis growth plates.

Hereditary multiple exostoses (HME), a condition associated with development and growth of bony exostoses at the ends of the long bones, is caused by germline mutations in the EXT genes. EXT1 and EXT2 function as glycosyltransferases that participate in the biosynthesis of heparan sulfate (HS) to modify proteoglycans. HS proteoglycans, synthesized by chondrocytes and secreted to the extracellular matrix of the growth plate, play critical roles in growth plate signaling and remodeling. As part of studies to delineate the mechanism(s) by which an exostosis develops, we have systematically evaluated four growth plates from two HME and two solitary exostoses. Mutational events were correlated with the presence/absence and distribution of HS and the normally abundant proteoglycan, perlecan (PLN). DNA from the HME exostoses demonstrated heterozygous germline EXT1 or EXT2 mutations, and DNA from one solitary exostosis demonstrated a somatic EXT1 mutation. No loss of heterozygosity was observed in any of these samples. The chondrocyte zones of four exostosis growth plates showed absence of HS, as well as diminished and abnormal distribution of PLN. These results indicate that, although multiple mutational events do not occur in the EXT1 or EXT2 genes, a complete loss of HS was found in the exostosis growth plates. This functional knockout of the exostosis chondrocytes' ability to synthesize HS chains further supports the observations of cytoskeletal abnormalities and chondrocyte disorganization associated with abnormal cell signaling.

Child↗
PubMed2001

A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis.

Hereditary multiple exostoses (EXT) is an autosomal dominant disease characterized by the formation of cartilage-capped prominences (exostoses) that develop from the juxta-epiphyseal regions of the long bones. 3 genes are known to be involved in the formation of exostoses. Among them, EXT1 and EXT2, which encode enzymes that catalyse the biosynthesis of heparan sulfate, an important component of the extracellular matrix, are responsible for over 70% of the EXT cases. A large Chinese family with hereditary multiple exostoses has been analysed and the disease-causing mutation has been found. Blood samples were obtained from 69 family members, including 23 affected individuals. The EXT phenotype was shown to be linked to the EXT2 gene by using 2-point linkage analysis. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA sequencing, a previously unreported deletion of a G in exon 3 of EXT2 gene was observed. This deletion co-segregated with the disease phenotype, suggesting that it is the disease-causing mutation in this family. Furthermore, in at least 4 members chondrosarcoma occurred after either an operation or injury of the exostosis and 3 of them died of the malignancy in the family. Whether the operation or injury was responsible for the malignant transformation still needs further study.

Base Sequence↗
PubMed1985

Muscle function studies in amputated lathyritic rats.

This study is presented to compare two methods of evaluating changes in muscle function after amputation of the left leg at the knee. Rats were fed a 50% Lathyrus odoratus diet, which causes exostoses to develop at sites of attachment of certain muscles. The rats were on the experiment for 3, 6, or 9 weeks. Muscles of rats killed at 6 weeks were weighed to determine whether atrophy or hypertrophy had occurred. Sizes of exostoses were evaluated subjectively at each time period. The left adductor longus and quadratus femoris muscles underwent considerable atrophy and their exostoses were smaller than on the right side. The left iliopsoas increased in weight and had the larger exostosis. However, the left pectineus increased in weight but had the smaller exostosis. It is concluded that changes in muscle weights and changes in sizes of exostoses both reflect changes in muscle function, but because the two methods respond by different mechanisms, the results do not always agree.

Amputation, Surgical↗
PubMed1997

[Torus mandibularis].

Solitary or bilateral, symptomless exostoses on the lingual surface of the mandibule are called mandibular torus. It is mainly seen in young males and has a benign clinical course. The etiopathology is not known. Both genetic and environmental factors such as the anatomy of the lower jaw are considered. Syndromes associated with facial exostoses such as Proteus syndrome or Gardner's syndrome should be clinically excluded. A 40-year-old man with exostoses of the jaw is reported. With this case report we would like to draw attention to a disease which has rarely been described in the German dermatological literature.

Adult↗
PubMed1999

The neoplastic pathogenesis of solitary and multiple osteochondromas.

Many theories of osteochondroma pathogenesis have been advanced. Genetic research into the inherited multiple form, hereditary multiple exostoses, has revealed a new family of tumour suppressor genes denoted EXT. Patterns of EXT gene mutation in hereditary multiple exostoses, in solitary and multiple osteochondromas, and in chondrosarcoma are analogous to those found in other tumour suppressor genes responsible for family cancer traits and associated malignancies. With one exception, most features of osteochondroma behaviour are comparable to those of benign neoplasms. The neoplastic pathogenesis of osteochondromas provides an alternative to the traditional 'skeletal dysplasia' theory to explain the growth disturbance associated with hereditary multiple exostoses. Recent studies on the physiological function of EXT genes are reviewed and implications for osteochondroma 'cell-of-origin' theories are discussed.

Bone Neoplasms↗