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Spondylosis hyperostotica is described by means of a case report. It may cause dysphagia by massive ventral exostoses of the cervical spine. Therapeutic aspects are discussed.
A case of a mentally retarded male patient with associated physical abnormalities resembling the multiple exostoses-mental retardation syndrome (MEMR, Langer-Giedion or Ale-Calo syndrome) is reported. The patient represents one of the most severe examples of this condition; he also has a triphalangeal thumb with double distal phalanges, a feature not reported previously.
Sodium fluoride (5 mg/kg of body weight) was fed for 20 months to horses with hereditary multiple exostoses (HME), a skeletal disorder that primarily affects endochondral bones during skeletal development. Rib biopsies were performed on both HME horses not fed fluoride (control) and HME horses that were fed fluoride to obtain comparable specimens for chemical analyses and x-ray diffraction. Fluoride content of the rib from a horse fed fluoride for 20 months was approximately 20 to 30 times higher than that from a control horse. Fluoride content of the bone tumors was higher than those of normal bones in both control and fluoride-fed horses. The effect of fluoride uptake on the Ca/P ratio was slight. The Ca/P ratios did not differ significantly between tumorous and normal ribs. X-ray diffraction studies showed that the crystallinity (ie, crystal size/perfection) of the mineral apatite in tumor of the rib from the control horse was lower than that of normal bone from the same rib. Fluoride, however, induced a marked change in the crystallinity at both the tumorous and the normal bone sites. The crystallinity of the tumor apatite in the fluoride-fed horse exceeded that of normal bone in the control horse. Otherwise, there were not demonstrable fluoride-induced gross or radiographic changes in the bone tumors.
The authors report a study of 408 cases of exostosis (318 single and 90 multiple) from the records of the Tumour Centre of the Rizzoli Institute. Special attention was paid to the relationship with peripheral chondrosarcoma, 73 cases of which are also in the records of the Institute, and were separately studied. The authors conclude that it is impossible to determine the incidence of malignant transformation of solitary exostosis. The incidence of malignant transformation of multiple exostoses in the present case material was 13 per cent, but the true incidence would undoubtedly be higher if all patients were followed up for life.
The clinical findings in the case of three patients with subungual exostoses are summarized and the historical references to this condition are presented herein.
Hereditary multiple exostosis (EXT) is an autosomal dominant disorder characterized by bony exostoses at the ends of the long bones. Linkage studies have recently suggested that there are three chromosomal locations for EXT genes, 8q24.1 (EXT1), the pericentric region of 11 (EXT2), and 19p (EXT3). As part of a larger study to determine the frequencies of the three EXT types in the United States, we have ascertained a large multigenerational family with EXT and one family member with a chondrosarcoma. This family demonstrated linkage of the disease to chromosome 11 markers. The constitutional and tumor DNAs from the affected family member were compared using short-tandem-repeat markers from chromosomes 8, 11, and 19. Loss of heterozygosity (LOH) in the tumor was observed for chromosome 8 and 11 markers, but chromosome 19 markers were intact. An apparent deletion of the marker D11S903 was observed in constitutional DNA from all affected individuals and in the tumor sample. These results indicate that the EXT2 gene maps to the region containing marker D11S903, which is flanked by markers D11S1355 and D11S1361. Additional constitutional and chondrosarcoma DNA pairs from six unrelated individuals, two of whom had EXT, were similarly analyzed. One tumor from an individual with EXT demonstrated LOH for chromosome 8 markers, and a person with a sporadic chondrosarcoma was found to have tumor-specific LOH and a homozygous deletion of chromosome 11 markers. These findings suggest that EXT genes may be tumor-suppressor genes and that the initiation of tumor development may follow a multistep model.
In this study we evaluated the relation between exposure of the ear canal to cold water and development of exostosis. Furthermore we wanted to evaluate the clinical outcome of surgical removal of the exostosis. The material consisted of a group of 15 winter bathers who had been exposed to cold water over a period varying from three to 45 years. All but one subject who had exposed the ear canal to cold water had developed exostoses of the ear canals. Follow-up examinations of nine patients after surgical removal of the exostosis revealed normal, well calibrated ear canals. Three winter bathers who continued the exposure to cold water developed a new exostosis.
Two children with progressive facial atrophia are described. In both asymmetria of the face was the reason for neuropediatric examination. Discrete neurological symptoms of this neurocutaneous syndrome were found. In patient 1 atrophia of one side of the face had developed shortly after surgical treatment of a mandibular exostose on the other side of the face. In patient 2 first signs of hemifacial atrophia were found in the newborn. Both children showed only discrete neurological symptoms. Etiology of this rare disease is still unknown, causal treatment is not possible.
Two outbreaks of fluorosis in cattle and sheep were investigated in the Northern Transvaal. The animals exhibited severe dental lesions, lameness and exostoses. Plasma fluoride concentrations were high and there was an inversion of the albumin/globulin ratio. Alkaline phosphatase activity was elevated. Drinking water from boreholes contained excessive amounts of fluoride and upon irrigation, pastures were also contaminated with fluoride.
The author presents several relatively uncommon foot pathologies appearing in athletes. Unusual exostoses, rare accessory ossicles, along with soft tissue and bone tumors may need to be included in the differential diagnosis. These should be considered if an athlete has a recalcitrant injury not corresponding to usual therapies.
This article discusses a case of osteochondroma suffered by a female patient. The typical clinical and radiographic signs and symptoms are presented. Osteochondromas may be pedunculated or sessile. Malignant transformation ranges from 1% for solitary lesions to 20% for hereditary multiple exostoses. If transformation occurs, chondrosarcoma usually develops. Most lesions are asymptomatic and require no treatment.
Many dentists have patients in their practice with mandibular exostoses, termed torus mandibularis. The majority of these asymptomatic, benign bony outgrowths remain undisturbed over the patient's lifetime. However, the tori occasionally need to be removed. The differential diagnosis for the tori are discussed as well as the indications and techniques for their removal. Various hypotheses concerning the etiology and epidemiology of torus mandibularis are also reviewed.
Benign cartilaginous tumors are some of the most common lesions affecting the skeleton of children. These include exostoses, enchondromas, periosteal chondromas, chondromyxoid fibroma, and chondroblastoma. The clinicopathologic features of these conditions and their treatment is discussed.
A 24-year-old man with hereditary multiple exostoses had numbness of the lower extremities and difficulty walking. CT displayed a calcified extradural mass lesion within the spinal canal at T-8 causing cord compression. MR imaging showed it to be contiguous with the upper endplate of T-8, suggesting the diagnosis of osteochondroma, a rare cause of cord compression, and distinguishing the lesion from a calcified disk fragment.
Benign mass lesions of the external auditory canal, such as exostoses and osteomas, are common findings on physical examination but most often do not require treatment. The differential diagnosis of lesions in the external auditory canal, however, should not be limited to those benign processes discussed here, but should also include infectious, dermatologic, congenital, and malignant processes.
The authors describe a compartment syndrome of the deep posterior flexor compartment due to perforation of the popliteal artery by an osteocartilaginous exostosis, in a healthy 13-year-old boy. The difficulties in making the diagnosis are discussed. In a review of the literature regarding this condition, the combination of compartment syndrome and exostoses could not be found.
A family is described in which three of seven siblings developed a T-cell lymphoblastic lymphoma. Tumor cells formed rosettes with sheep erythrocytes, lacked surface Ig, and expressed human T- but not B-lymphocyte antigens. They lacked the enzyme terminal transferase suggesting a lymph node rather than thymic T-cell origin. Autopsy findings supported this conclusion. All three sibs, like their father, had numerous cafe'-au'lait spots indicative of Von Recklinghausen neurofibromatosis. One child had a subcutaneous fibroma, and another had multiple colonic polyps and exostoses characteristic of Gardner syndrome. Both are autosomal dominant conditions known to predispose to malignancies. The genetic factors responsible for these conditions may also predispose to the development of "post-thymic" T-cell lymphoblastic lymphoma.
A unique inherited skeletal disorder has been identified in 45 persons in five generations of a kindred of mixed ancestry in South Africa. Discomfort in the hip joints develops in childhood and the course is progressive, with handicap in middle age. General health is good, height is not reduced by any significant degree, and there is no nonskeletal involvement. The major changes are in the femoral capital epiphyses, which are flattened and fragmented; secondary degenerative arthropathy develops at a later stage. Platyspondyly of variable but mild degree is present in about 60% of affected persons. Other minor changes, including iliac exostoses, are present occasionally. Pedigree data indicate autosomal dominant inheritance, with a reasonably consistent phenotypic expression. In view of the geographic distribution of this condition we propose the designation "Namaqualand hip dysplasia" (NHD).