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At least 613 records · Page 34Linked to original sources
PubMed1992

Benign osteochondromas and exostotic chondrosarcomas: evaluation of cartilage cap thickness by ultrasound.

Ultrasonography (US) enables accurate assessment of the cartilage cap of exostoses. The cartilage cap appears as a hypoechoic layer covering the hyperechoic surface of the calcified part. Measurements of cap thickness with US were compared with measurements performed on pathological specimens in 22 resected exostoses and 2 exostotic chondrosarcomas. The US measurements proved to be very accurate, with a mean measurement error of less than 2 mm for cartilage caps less than 2 cm thick. The detection rate and measurement accuracy of US were higher than with computed tomography (CT) and comparable to magnetic resonance imaging (MRI), which were available in 14 and 10 cases, respectively. US appears to be a good procedure for evaluating the cartilage cap, which is usually thin for a benign exostosis and thick for a malignancy. In addition, other complications--such as bursa formation--are easily recognizable. The sole limitation is that US cannot visualize the cartilage cap when it is inwardly orientated or deeply located in soft tissues, which are both, however, relatively uncommon situations.

Bone Neoplasms↗
PubMed1979

The Langer-Giedion-syndrome (tricho-rhino-phalangeal syndrome, type II).

A 15-year-old girl with the Langer-Giedion-syndrome (tricho-rhinophalangeal syndrome, type II) is presented. The features are multiple exostoses, sparse, fine hair and an abnormal face and hands. X-ray examination reveals exostoses and abnormal epiphyses. In this case intelligence is normal; there is severe sensorineural deafness (60--80 dB hearing loss). The genetic aspects of the syndrome are discussed.

Abnormalities, Multiple↗
PubMed1987

An unusual case of diaphyseal aclasis arising in fingers.

Diaphyseal aclasis (multiple hereditary exostoses) occurs in the bones developed in cartilage and gives rise to cartilage-capped exostoses. It usually affects the ends of the diaphyses of long bones of extremities (McKusick, 1972). Although the phalanges of the fingers may be shorter than normal, no record could be found of significant deformity. A case of digital deformity is described below.

Child, Preschool↗
PubMed2004

Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification.

Exostosin1 (Ext1) belongs to a family of glycosyltransferases necessary for the synthesis of the heparan sulfate (HS) chains of proteoglycans, which regulate signaling of several growth factors. Loss of tout velu (ttv), the homolog of Ext1 in Drosophila, inhibits Hedgehog movement. In contrast, we show that reduced HS synthesis in mice carrying a hypomorphic mutation in Ext1 results in an elevated range of Indian hedgehog (Ihh) signaling during embryonic chondrocyte differentiation. Our data suggest a dual function for HS: First, HS is necessary to bind Hedgehog in the extracellular space. Second, HS negatively regulates the range of Hedgehog signaling in a concentration-dependent manner. Additionally, our data indicate that Ihh acts as a long-range morphogen, directly activating the expression of parathyroid hormone-like hormone. Finally, we propose that the development of exostoses in the human Hereditary Multiple Exostoses syndrome can be attributed to activation of Ihh signaling.

Animals↗
PubMed2003

[Osteoma and exostosis of the external auditory meatus: a clinical diagnosis].

Proliferative osseous lesions usually found in the external ear are exostoses and osteomata. In other sites they are clearly different entities, but in this location histopathologic differential features are not so reliable in the study of the specimens. An occlusive osteomata is shown, with the typical clinical presentation demonstrated in a multiplanar CT. Microscopically, the lesion consisted of mature bone trabeculae, separated by medular spaces with fibrovascular tissue, characteristic features of osteomata. However, in the most superficial areas, lines of bone apposition, like those in exostoses, were found. A literature review confirms the lack of specificity of the histopathologic study, so diagnosis is based on clinical data.

Aged↗
PubMed2005

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.

Aniridia, Wilms tumor, genitourinary abnormalities, growth and mental retardation are the cardinal features of the WAGR 11p13 deletion syndrome. The Potocki-Schaffer syndrome or proximal 11p deletion syndrome (previously DEFECT11 syndrome) is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses and enlarged parietal foramina. Mental handicap, facial dysmorphism and craniosynostosis may also be associated. We report a patient with combined WAGR and Potocki-Shaffer syndromes, and obesity. She presented with aniridia, cataract, nystagmus, corneal ulcers and bilateral congenital ptosis. A left nephroblastoma was detected at 15 months. Other features included moderate developmental delay, growth deficiency, facial dysmorphism, multiple exostoses and cranial lacunae. High-resolution and molecular cytogenetics confirmed a del(11)(p11.2p14.1) deletion with a proximal breakpoint between the cosmid DO8153 and the BAC RP11-104M24 to a distal breakpoint between cosmids CO8160 (D11S151) and F1238 (D11S1446). The deletion therefore includes EXT2, ALX4, WT1 and PAX6. This case appears to be the second patient reported with this combined deletion syndrome and confirms the association of obesity in the WAGR spectrum, a feature previously reported in four cases, and for which the acronym WAGRO has been suggested. Molecular and follow-up data on the original WAGRO case are briefly presented.

Adolescent↗
PubMed2005

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.

Potocki-Shaffer syndrome (PSS) is a contiguous gene deletion syndrome that results from haploinsufficiency of at least two genes within the short arm of chromosome 11[del(11)(p11.2p12)]. The clinical features of PSS can include developmental delay, mental retardation, multiple exostoses, parietal foramina, enlarged anterior fontanel, minor craniofacial anomalies, ophthalmologic anomalies, and genital abnormalities in males. We constructed a natural panel of 11p11.2-p13 deletions using cell lines from 10 affected individuals, fluorescence in situ hybridization (FISH), microsatellite analyses, and array-based comparative genomic hybridization (array CGH). We then compared the deletion sizes and clinical features between affected individuals. The full spectrum of PSS manifests when deletions are at least 2.1 Mb in size, spanning from D11S1393 to D11S1385/D11S1319 (44.6-46.7 Mb from the 11p terminus) and encompassing EXT2, responsible for multiple exostoses, and ALX4, causing parietal foramina. Yet one subject with parietal foramina whose deletion does not include ALX4 indicates that ALX4 in this subject may be rendered functionally haploinsufficient by a position effect. Based on comparative deletion mapping of eight individuals with the full PSS syndrome including mental retardation and two PSS families with no mental retardation, at least one gene related to mental retardation is likely located between D11S554 and D11S1385/D11S1319, 45.6-46.7 Mb from the 11p terminus.

Abnormalities, Multiple↗
PubMedDate not supplied

[Intra-acetabular localisation of an osteochondroma causing subluxation of the hip joint].

INTRODUCTION: Intra-acetabular localisation of an osteochondroma causing subluxation of the hip joint is a rare entity in children suffering from multiple hereditary exostoses. In literature only 6 operatively treated cases have been reported. CASE: We add the case of an 8-year-old boy with an intraarticular exostosis of the left acetabulum causing subluxation of the hip. Using an anterolateral approach to the hip joint this exostosis was removed surgically together with some extraarticular exostoses of the proximal femur. The hip could be re-centered in combination with an additional varus derotation osteotomy of the proximal femur. Intraoperatively the femoral head was only subluxated to minimise the risk of avascular necrosis. After a follow-up of two years the patient has complete remission of symptoms and there is no evidence of avascular necrosis radiologically with good remodelling of the left hip. CONCLUSION: The operative treatment of an intraarticular exostosis of the hip joint is a difficult and risky surgical procedure. The reported open surgical procedure allowed resection of the intraarticular exostosis in combination with therapy of additional pathologies of the proximal femur.

Acetabulum↗
PubMed2000

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.

Hereditary multiple exostoses, a dominantly inherited genetic disorder characterized by multiple cartilaginous tumors, is caused by mutations in members of the EXT gene family, EXT1 or EXT2. The proteins encoded by these genes, EXT1 and EXT2, are endoplasmic reticulum-localized type II transmembrane glycoproteins that possess or are tightly associated with glycosyltransferase activities involved in the polymerization of heparan sulfate. Here, by testing a cell line with a specific defect in EXT1 in in vivo and in vitro assays, we show that EXT2 does not harbor significant glycosyltransferase activity in the absence of EXT1. Instead, it appears that EXT1 and EXT2 form a hetero-oligomeric complex in vivo that leads to the accumulation of both proteins in the Golgi apparatus. Remarkably, the Golgi-localized EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone, which suggests that the complex represents the biologically relevant form of the enzyme(s). These findings provide a rationale to explain how inherited mutations in either of the two EXT genes can cause loss of activity, resulting in hereditary multiple exostoses.

Amino Acid Sequence↗
PubMed2000

Location of the glucuronosyltransferase domain in the heparan sulfate copolymerase EXT1 by analysis of Chinese hamster ovary cell mutants.

Heparan sulfate formation occurs by the copolymerization of glucuronic acid (GlcA) and N-acetylglucosamine (GlcNAc) residues. Recent studies have shown that these reactions are catalyzed by a copolymerase encoded by EXT1 and EXT2, members of the exostosin family of putative tumor suppressors linked to hereditary multiple exostoses. Previously, we identified a collection of Chinese hamster ovary cell mutants (pgsD) that failed to make heparan sulfate (Lidholt, K., Weinke, J. L., Kiser, C. S., Lugemwa, F. N., Bame, K. J., Cheifetz, S., Massagué, J., Lindahl, U., and Esko, J. D. (1992) Proc. Natl. Acad. Sci. U. S. A. 89, 2267-2271). Here, we show that pgsD mutants contain mutations that either alter GlcA transferase activity selectively or that affect both GlcNAc and GlcA transferase activities. Expression of EXT1 corrects the deficiencies in the mutants, whereas EXT2 and the related EXT-like cDNAs do not. Analysis of the EXT1 mutant alleles revealed clustered missense mutations in a domain that included a (D/E)X(D/E) motif thought to bind the nucleotide sugar from studies of other transferases. These findings provide insight into the location of the GlcA transferase subdomain of the enzyme and indicate that loss of the GlcA transferase domain may be sufficient to cause hereditary multiple exostoses.

Acetylglucosamine↗
PubMed1999

Solitary exostosis of the thoracic spine. Early diagnosis and treatment.

STUDY DESIGN: A case report. OBJECTIVE: To highlight the importance of early diagnosis and treatment of vertebral exostosis. SUMMARY OF BACKGROUND DATA: Few cases of spinal cord compression caused by solitary thoracic exostoses have been reported. METHOD: A solitary exostosis in the midline of the neural arch of the fifth thoracic vertebra, causing compression of the spinal cord documented on both magnetic resonance and computed tomographic examinations, is reported in a 51-year-old woman who had normal findings in a neurologic examination. RESULTS: The exostosis was successfully excised. CONCLUSION: Accurate preoperative diagnosis of vertebral exostoses is possible using magnetic resonance and computed tomography. Early excision avoids the development of a permanent neurologic deficit.

Exostoses↗
PubMed1986

Follow-up study of cartilaginous bone tumors.

A series of clinical and pathological studies were performed on 74 cartilaginous bone tumors including osteochondromas, multiple cartilaginous exostoses, chondromas, chondromatoses, benign chondroblastomas and chondrosarcomas. Resection was adequate for the osteochondromas, and no recurrence was observed. Out of 14 multiple cartilaginous exostoses, three, all in flat bones showed malignant change. The predominant sites of chondroma were the finger and toe bones, and curettage and bone graft was adequate treatment. Neither recurrence nor malignant change was observed. Two cases of chondromatosis, one of Ollier's disease and one of Maffucci's syndrome, were included in our series. Leg length discrepancy and pathologic fracture were common problems in chondromatosis. Moreover, malignant change was suspected in a hemangioma of the Maffucci's syndrome patient. Benign chondroblastoma was treated by curettage and bone graft, with no recurrence. In our series, 4 primary and 3 secondary chondrosarcomas were observed. Metastasis was seen in only one case. Because of the discrepancy between the biological behavior and histological findings of cartilaginous bone tumors, the malignancy of tumors should be evaluated by clinical signs and symptoms as well as by histological findings.

Adolescent↗
PubMed1996

Exostosis associated with autogenous gingival grafts: a report of 9 cases.

This report describes 9 cases presenting exostosis at mandibular and maxillary sites where autogenous gingival grafts have been used to increase the amount of attached gingiva. The exostoses were recognized during routine dental examinations and identified by palpation, horizontal sounding, occlusal radiographs, and in one case by histologic examination. Only in three cases was there a surgical removal of exostosis and recurrence was not observed during a follow-up evaluation. The remainder of the cases were not treated and the exostoses appeared to have limited growth. Apparently, a correlation between the presence of tori and the development of exostosis could not be established in these series of case reports, but a possible explanation with respect to the mechanism of bone formation is discussed along with the clinical implications of this interesting clinical finding.

Adolescent↗
PubMed1999

Palatal tubercles, palatal tori, and mandibular tori: prevalence and anatomical features in a U.S. population.

The prevalence and features of 3 types of exostoses commonly encountered during periodontal surgery were studied in a sample of 328 modern American skulls drawn from the collection at the American Museum of Natural History. Measurements were made of the height, width, and breadth of exostoses. The relationship to teeth or other skeletal structures was also recorded. Palatal tubercles were observed in 56% of all skulls (69% of all dentate skulls), with higher prevalences among males and African-Americans. Palatal tubercles were commonly associated with second and third molars, and were usually directly lateral to and a mean of 11.4 mm from the greater palatine foramen. Mandibular tori were observed in 27% of all skulls (42% of dentate skulls), with higher prevalences seen among African-Americans and males. The importance of these findings relates to the frequent need for exostosis removal to permit proper flap adaptation, especially in the posterior maxilla, and to the potential use of the mandibular and palatal tori as sources of autogenous cortical bone.

Adolescent↗
PubMed2005

Prevalence of anomalies in the appendicular skeleton of a fossorial rodent population.

The prevalence of macroscopic bone anomalies in the appendicular skeleton of wild rodents and, particularly, fossorial species is not well known. We examined 8,257 bones corresponding to 564 collection specimens (249 males and 315 females) of a fossorial form of water vole (Arvicola terrestris monticola). Animals were obtained monthly from July 1983 to December 1984 in the Aran Valley (Pyrenees). Most macroscopic anomalies were healed fractures or exostoses. The prevalence of anomalies was not significantly different between males and females but was clearly higher in adults than in juveniles and subadults. The frequency of alterations in the thoracic limb long bones was significantly higher than that in the pelvic counterparts. Aggressive intraspecific interactions and biomechanical factors related to burrowing may be associated with these differences. In females, remodeling of the innominate shape because of pregnancy and parturition could enhance fractures and exostoses in this structure.

Age Factors↗
PubMed2001

[Rare case of popliteal artery injury caused by distal femoral exostosis. Case report].

Complications of multiple exostoses occur rarely and articles about it can be found occasionally. We found reasonable to report our case because of its rarity. A female patient of 17 was under treatment in the Orthopaedic Clinic with multiple exostoses. Before her admission to the Clinic, a suddenly, painful swelling in the distal-third of the left femur occurred, and then a well detailed examination has done (bone radiograph, angiogramm, MR). The examinations arised the presence of pseudoaneurysm as a background of the swelling of the soft tissue, as well as the possibility of juvenile bone tumor at the same time. During the operation we detected a sharp exostosis on the distal medial condyle of the femur, which occurred a lesion on the popliteal artery. It was the base of forming the pseudoaneurysm. As a conclusion we would like to underline that during the attend of such cases, the presence of vascular surgical team is necessary.

Adolescent↗
PubMed2001

Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome).

Trichorhinophalangeal syndrome (TRPS) is characterized by its unique facial features and skeletal abnormalities. A bulbous, pear-shaped nose, elongated philtrum, sparse hair, cone-shaped epiphyses and mild growth retardation are found in both type I (TRPSI) and type II (TRPSII). TRPSII can be distinguished from TRPSI when multiple exostoses or redundant skin are present. While TRPSI is inherited in an autosomal dominant fashion, most cases of TRPSII are sporadic although there are a few cases which are familial. The following is a case report of TRPSII with incomplete penetrance in the index case and exostoses and growth retardation in the patient's two siblings.

Adolescent↗