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Frequency and distribution of palatal osseous alveolar marginal exostoses--POAMES.

1,272 human skulls were examined for frequency and distribution of POAMES--palatal osseous alveolar marginal exostoses. The sample consisted of Blacks, Mixed, Whites and Chinese as well as adult edentulous and dentate child skulls. POAMES were most prevalent between 35 and 45 years of age, appeared most commonly in the maxillary third molar region, followed by the second and first molar region, occurred most frequently bilateraly and were least prevalent in Blacks. The overall prevalence of POAMES was 14.5 per cent with a female to male ratio of 1:3,5. Ridge POAMES occurred most frequently, followed by combined, ledge and the nodular exostose types. It did not occur in children or edentulous adults.

Adolescent↗

[Clinical evaluation of multiple exostoses (17 cases) on bone scintigraphy].

17 patients with multiple exostoses were examined on bone scintigraphy. Inheritance was recognized on seven patients (41%). Onset age of 15 patients was under 20 years old and 10 patients were under 10. The number of lesions was 211 and they were usually recognized at metaphyses of long bones. The degree of accumulation was classified into four grades; 0 (not increased), 1 (slightly-mild), 2 (moderate) and 3 (strong). 153 lesions (73%) did not show definite increased activity (Grade 0, 1). Grade 3 included 14 lesions and they tended to be strongly calcified on X-P. This disease was said to transform into chondrosarcoma in 10 to 20%. Transformation was said to occur preferably in adults at heavily calcified lesion or one which showed irregularly thick hyaline cartilage. Such lesions showed more increased accumulation than normal bones. In our cases three cases were resected for this reason but turned out to be benign histologically. One case showed malignant transformation. On this case a large malignant tumor replaced the parent bone and bone scan showed the cold lesion. Bone scintigraphy was considered to be useful to evaluate the biological activity of multiple exostoses.

Adolescent↗

Osteosarcoma arising from a multiple exostoses lesion: case report.

A case of osteosarcoma arising from a multiple exostoses lesion is presented. Poorly differentiated osteosarcoma occurred in a twelve-year-old girl's proximal tibia where an exostosis was confirmed from radiographs. We treated this patient with preoperative chemotherapy, thigh amputation and postoperative chemotherapy, but she died of multiple pulmonary metastases seven months after surgery. The osteosarcoma, complicated by multiple exostoses, had a very poor prognosis because it was resistant to various anticancer agents.

Bone Neoplasms↗

DNA polymorphism analysis of hereditary multiple exostoses in horses.

Genomic DNA polymorphisms obtained by restriction fragment-length polymorphism from healthy horses and horses with hereditary multiple exostoses were analyzed. These DNA were digested by 12 restriction enzymes and were hybridized against 6 isotopically labeled oncogene probes. Hybridization was not detected with the viral oncogene, v-ras, which indicated this oncogene was absent in the equine genome. Oncogenes (c-raf-1, c-fes, c-myb, c-myc, and c-sis) were present and had similar hybridization patterns and signal intensities in DNA from healthy horses and horses with hereditary multiple exostoses. Unique and distinct restriction fragment-length polymorphisms were detected with the c-raf-1 probe only in BamHI- and PstI-digested equine DNA.

Animals↗

[Disturbed growth in height in multiple cartilaginous exostoses (author's transl)].

Basing on the hypothesis that reduced body height in patients with multiple cartilaginous exostoses would be mainly accounted for by shorter extremities, not by a shorter trunk, the authors clinically examined 19 exostosis patients in respect of thigh, lower leg, upper and lower arm, as well as height of the seated patient. The dimensions were compared by the method of matched pairs, with 19 volunteers without diseased skeleton, who corresponded with one of the exostosis patients in respect of age, sex and height of seated patient. Results were evaluated according to Wilcoxon's test. This showed a statistically significant reduction in length of the extremities in adults with multiple cartilaginous exostoses.

Adolescent↗

Talotibial exostoses with entrapment of the deep peroneal nerve.

An athlete with talotibial exostoses with entrapment of the deep peroneal nerve is presented. This diagnosis was made by history, physical and roentgenographic examinations, bone scan, and isokinetic exercising. Treatment of this condition involved surgical excision of the boney exostoses.

Adult↗

The petrified auricle: comments on ossification, calcification and exostoses of the external ear.

The petrified auricle is a clinical entity in which the auricle, in part or total, has become stone-hard and moves as a rigid unit. This uncommon condition is most often due to ectopic calcification of the auricular cartilage. It may occur as a result of local trauma, in association with various systemic diseases such as Addison's disease, hypopituitarism, thyroid or parathyroid disorders, or following radiation therapy. Auricular ossificans (ectopic ossification) is a rare phenomenon in which the rigidity of the petrified ear is due to replacement of the elastic cartilage by bone. In the literature there are presently nine cases documented histologically. Two more cases are reported here. In most cases, the auricular changes are preceded by acute, severe hypothermia (frostbite). Exostoses of the external auditory canal is another disease of the external ear in which the proliferation of bone follows chronic mild hypothermia of the external auditory canal caused by exposure to cold water while surfing. It is postulated that if surfers who have developed exostoses of the external auditory canal from the cold water continue to enjoy such littoral activities, ossification of the auricle may also occur.

Adult↗

Subungual exostoses.

From 1910 through 1975, forty-four patients with subungual exostoses were seen at the Mayo Clinic. Thirty-four of them had the exostosis on the great toe. Forty-three of the patients were treated by local excision and one was treated by amputation of the hallux. Five patients had local recurrence. None of the tumors underwent malignant change. Histologically, the tumors consisted of a proliferating fibrocartilaginous gap that merged into mature trabecular bone at its base. The growth in the cap was so active that is sometimes mimicked sarcoma, but no true anaplasia was seen. The subungual exostoses were uniformly benign, and local excision was the treatment of choice.

Adolescent↗

[Dysphagia and cervical exostoses].

Three cases of highly situated (cervical) dysphagia are presented. Compression of the oesophagus and/or its reflex contraction caused by cervical exostoses is the advanced etiopathogenic mechanism. Diagnosis should be essentially based on lateral radiographic views and endoscopic studies. Initial treatment should be conservative. In case this proves unsatisfactory, surgical excison of the exostoses is indicated.

Cervical Vertebrae↗

Multiple exostoses-mental retardation syndrome. A case report and review of the literature.

A girl seven years ten months of age with multiple exostoses-mental retardation (MEMR) syndrome was treated by bilateral supracondylar osteotomies at the age of six years 11 months for correction of severe genu valgum. The case is the 14th to be described in the English-language literature and seems to be the first on record in which the deformity was corrected by surgery. Typical findings in this syndrome include unusual facial features with bulbous nose, sparse scalp hair, large ears, microcephaly, mental retardation, cone-shaped epiphyses of the digital phalanges, and multiple exostoses. Each of these features may also appear in other constitutional and genetic disorders, and only their combination points to a definite diagnosis of MEMR syndrome. Other features, e.g., joint laxity and loose skin, are transient and may cause some confusion in diagnosis, sometimes leading to a mistaken diagnosis of cerebral palsy or Ehlers-Danlos syndrome. Thus, care must be taken in consecutive examinations to seek and identify each of the above mentioned typical features of the disorder.

Child↗

Diffuse exostoses and osteomata of the external auditory canal: a report of 100 operations.

The clinical, surgical, and postoperative findings were reviewed in 84 operations for correction of bony stenosis of the external auditory canal caused by diffuse exostoses. Sixteen operations for removal of a solitary osteoma of the external auditory canal are also included in the review. The solitary osteoma is an uncommon unilateral lesion, attached to the tympanosquamous or tympanomastoid suture line, almost always in the outer half of the ear canal. Removal is indicated in most cases and may be performed through the external meatus under local anesthesia. Diffuse exostoses of the external auditory canal are common bilaterally symmetrical hyperostoses of the tympanic bone, seen predominantly in men who are ocean swimmers. Surgical correction of the bony stenosis is indicated only if the lesion is symptomatic. At the Otologic Medical Group we perform the operation postauricularly, rather than transmeatally, in order to remove the lesion completely and to avoid complications.

Adolescent↗

Osteomas and exostoses of the external auditory canal - medical and surgical management.

Osteomas and exostoses have distinct clinical and histopathologic features. Osteomas are usually solitary, pedunculated, bony growths attached to the tympanosquamous or tympanomastoid suture line, characterized histologically by an internal structure of abundant discrete fibrovascular channels surrounded by irregularly oriented lamellated bone. Exostoses are usually multiple, bilaterally symmetrical, broad based elevations of bone involving the tympanic bone. They are histologically characterized by parallel, concentric layers of subperiosteal bone. The infrequent symptoms resulting from these lesions can usually be managed medically; however, on occasion surgical removal is indicated. While surgical removal of the osteoma is usually possible via the external auditory meatus, we recommend that an exostosis be removed utilizing a postauricular approach.

Adult↗

Knee deformities in multiple hereditary exostoses. A longitudinal radiographic study.

For a mean period of 7.8 years, the morphology of knee deformity and its annual changes in 8 patients (16 knees; mean age at the initial examination, 8.4 years) with multiple hereditary exostoses were evaluated radiographically. Knee deformity developed during the growth spurt period. Genu valgum with a femorotibial angle that decreased more than 2 standard deviations from the mean of age-matched normal children was observed in 6 of the 16 knees. In 3 of these 6 knees, recurrent dislocation of the patella was observed. Angulation of the femur varied among the knees, but the tibia showed valgus angulation in the proximal metaphysis in all knees. Thus, knee deformity in patients with multiple hereditary exostoses was primarily genu valgum caused by valgus angulation of the tibia.

Child↗

Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11.

Hereditary multiple exostoses (EXT) is an autosomal dominant skeletal disorder characterized by the formation of multiple exostoses on the long bones. EXT is genetically heterogeneous, with at least three loci involved: one (EXT1) in the Langer-Giedion region on 8q23-q24, a second (EXT2) in the pericentromeric region of chromosome 11, and a third (EXT3) on chromosome 19p. In this study, linkage analysis in seven extended EXT families, all linked to the EXT2 locus, refined the localization of the EXT2 gene to a 3-cM region flanked by D11S1355 and D11S1361/D11S554. This implies that the EXT2 gene is located at the short arm of chromosome 11, in band 11p11-p12. The refined localization of EXT2 excludes a number of putative candidate genes located in the pericentromeric region of chromosome 11 and facilitates the process of isolating the EXT2 gene.

Chromosomes, Human, Pair 11↗

[The multiple exostoses syndrome. 3 cases in one family].

Multiple exostoses syndrome is a rare autosomal dominant disorder that affects the enchondral skeleton during growth. The formation of numerous exostoses causes deformities of bones and joints. Degenerative malignant changes are described. A careful follow up during paediatric age is required. Three new cases in the same family are reported in this paper.

Adult↗

[Osteomas and exostoses of the facial structures: a morphological study and the etiopathogenetic considerations].

The differential diagnosis of the osteocondensing lesions (osteomata and exostoses) is till today a topical issue for the experts. In order to test the reliability of the etiopathogenetic theories advanced up to now, the authors carried out a research on samples of tissue coming from surgical interventions for osteomata and exostoses of the maxillofacial region resortied with optical and polarized-light microscopes (OM-PLM). This research meant to analyze the morphological and structural characteristics of newly formed tissues; a considerable attention has been devoted to the difference between primary and secondary bone and to the quality of cementing lines. Thanks to the data resulted from this study, the authors advanced interesting theories about these pathologies either from an etiological and nosological point of view.

Diagnosis, Differential↗

Genetic heterogeneity in families with hereditary multiple exostoses.

We have carried out a linkage analysis on 11 families segregating gene(s) for hereditary multiple exostoses (EXT). Four highly informative, short tandem-repeat (STR) markers that have been physically mapped to an interval surrounding the Langer-Giedion chromosomal region (8q24.11-q24.13) were used in a multipoint linkage analysis. Significant evidence for linkage of EXT with genetic heterogeneity was found. A model of heterogeneity with linkage of the disease gene to the STR markers in 70% of the families (with a 95% confidence interval of 26%-96%) produced a maximum LOD score of 8.11, with the most likely position of EXT between D8S85 and D8S199. Thus there are at least two genes that are capable of causing hereditary multiple exostoses, one in the Langer-Giedion region and one at another, unlinked location.

Cell Line↗

One-bone forearm as a salvage procedure for recalcitrant forearm deformity in hereditary multiple exostoses.

Hereditary multiple exostoses commonly affect the forearm and cause significant deformity. The response of this disease to operative intervention is usually gratifying, but in recalcitrant cases salvage procedures may be necessary. We report two patients treated with radial-ulnar fusion, review the technical aspects of the creation of the so-called "one-bone forearm," and discuss the classification and treatment alternatives available to surgeons treating patients with forearm exostoses. Treatment of both forearms resulted in functional, painless extremities at 3- and 14-year follow-up.

Adolescent↗