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Multiple hereditary osteochondromatosis is an uncommon autosomal dominant condition in which patients are predisposed to the development of chondrosarcoma. We report a case of a patient who developed a secondary low-grade chondrosarcoma in this setting. The tumor was associated with an unusual multinodular invasive growth pattern into a pre-existing bursa that was present overlying the osteochondroma.
Two cases of avulsion fracture of the anterior inferior iliac spine are reported. One was a missed diagnosis that resulted in exostosis formation needing excision. The second case was an adolescent with significant displacement of the fragment and a primary open reduction and internal fixation was done. A high index of suspicion is necessary to diagnose this relatively rare injury and surgery has a role in carefully selected cases.
A girl aged 11 years was referred to us with a medial upper right tibial exostosis. As the lesion was asymptomatic, surgery was not undertaken. The patient defaulted from follow up, and, when reviewed 32 months later, there was no clinical or radiographic evidence of the exostosis. Spontaneous involution of an exostosis may occasionally occur in childhood.
Torus palatinus (TP) is the most common exostosis of the maxillofacial skeleton. It usually does not cause symptoms, but removal may be required if it interferes with the function, denture placement, or suffers from recurring traumatic surface ulceration. Large variations in the prevalence of TP have been reported in different populations and were associated with age and sex. The aim of this study is to investigate the prevalence, size, and location of TP in a population of young Turkish. A total of 1,943 schoolchildren, 1,056 males and 887 females, ranging in age from 5 to 15 years were assessed for the prevalence, size and location of TP. Inspection and palpation were examined for the presence or absence of TP. The prevalence of the TP in study population was 30.9%. TP was found significantly more in females than in males (34.3, 28.1%, P<0.005). The more of TP were smaller than 2 cm (91.5%), and in molar location (62.9%). This study indicated that the prevalence of TP in Turkish population was high. There was a strong correlation between the prevalence of TP and age or sex.
To assess the number, location, direction and size of osteophytes and the change of the joint space width (JSW) in radiographs of the tibiofemoral (TF) joint in middle-aged people with longstanding knee pain with radiographic osteoarthritis (OA), and to correlate between the range of motion (ROM). In the format of a retrospective study, the OA of both knee in 84 people, 8 men and 76 women (aged 42-77 years), with chronic knee pain at inclusion were examined. The JSW of the TF joint and the number, location, direction and size of osteophyte were evaluated using a PA view in weightbearing. The location and direction of osteophytes showed some variation at each site, particularly at the lateral tibial plateau and medial femoral trochlea. Significant correlations were found between ROM of the right and left knee and the size, location and direction of the most osteophytes. In both knees, the JSW medially was lower when compared with the lateral compartment. The mean JSW in the lateral tibiofemoral compartment of the right knee was associated with active and passive flexion degree of the patients. The mean JSW in the medial and lateral tibiofemoral compartment of the left knee correlated with BMI, and changes in the Kellgren and Lawrence grade of the patients. There was found statistically significant correlation between mechanical medial proximal tibial angle and the osteophyte size of the right and left knee. We think that definitions which incorporate both osteophytes and joint space narrowing offer the association with worsening of active and passive ROM.
Our aim was to determine the incidence of synostoses in the bones of the lower limbs in patients with multiple cartilaginous exostosis (MCE) and use the available imaging to suggest the cause and mechanism of its development. Radiographs of the lower legs of 21 patients with MCE were reviewed. With the intention of demonstrating the exact site and extent of synostoses and other bone deformities, such as bone pressure atrophy or erosions in five patients, 8 proximal and 6 distal tibiofibular joints were examined by CT scans. No synostoses were present in 11 patients and 10 patients had 1 to 4 synostoses. Of these synostoses, 14 were localized below the knee joint and 9 above the ankle joint. A growing osteochondroma arising from tibia or fibula can cause an erosion in the contagious surface of the neighbouring bone. If facing osteochondromata are present in both bones and show an interlocking growth at abutting parts, on osseous fusion can take place with formation of a synostosis in the proximal or distal tibiofibular joint region. In adult patients with MCE and abundant osteochondromata synostoses between the neighbouring bones of the lower legs are common findings; they are always caused by coalescence of "kissing" osteochondromata.
Radiological cases constituted 2% of the total number of legal cases in Sweden during 1996. The young man in this report accused a radiologist of having missed a fracture 7 years earlier based on a new radiology examination and report. In reality the latter report was incorrect and the patient had a rare exostosis that explained the clinical signs and symptoms. The alleged fracture was an epiphyseal line to a non-unified ossification centre at the tip of the unique exostosis.
We present a case of a patient with complaints in both elbows, due to a prominent bicipital tuberosity with an enlarged bursa, in which operative resection was successful.
Congenital disorders of glycosylation (CDG, formerly named carbohydrate-deficient glycoprotein syndromes) are a rapidly growing family of inherited disorders affecting the assembly or processing of glycans on glycoconjugates. The clinical spectrum of the different types of CDG discovered so far is variable, ranging from severe multisystemic disorders to disorders restricted to specific organs. This review deals with clinical, diagnostic, and biochemical aspects of all characterized CDGs, including a disorder affecting the N-glycosylation of erythrocytes, congenital dyserythropoietic anemia type II (CDA II/HEMPAS), and the first disorders affecting O-glycosylation. Since the clinical spectrum of symptoms in CDG is variable and may be unspecific, a generous selective screening for the presence of CDG is recommended.
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Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B (ACG1B). To learn more about the molecular basis of DTDST chondrodysplasias and about genotype-phenotype correlations, we studied fibroblast cultures of three new patients: one with AO-2, one with DTD, and one with an intermediate phenotype (AO2/DTD). Reduced incorporation of inorganic sulfate into macromolecules was found in all three. Each of the three patients was found to be heterozygous for a c862t transition predicting a R279W substitution in the third extracellular loop of DTDST. In two patients (DTD and AO2/DTD), no other structural mutation was found, but polymerase chain reaction amplification and single-strand conformation polymorphism analysis of fibroblast cDNA showed reduced mRNA levels of the wild-type DTDST allele: these two patients may be compound heterozygotes for the "Finnish" mutation (as yet uncharacterized at the DNA level), which causes reduced expression of DTDST. The third patient (with AO2) had the R279W mutation compounded with a novel mutation, the deletion of cytosine 418 (delta c418), predicting a frameshift with premature termination. Also the delta c418 allele was underrepresented in the cDNA, in accordance with previous observations that premature stop codons reduce mRNA levels. The presence of the DTDST R279W mutation in a total of 11 patients with AO2 or DTD emphasizes the overlap between these conditions. This mutation has not been found so far in 8 analyzed ACG1B patients, suggesting that it allows some residual activity of the sulfate transporter.
We reported a case of a 42-year-old man with a 3-year history of headache due to a spinal osteochondroma. Repeated neurological evaluation, including EEG studies and CT of the cerebrum, revealed no pathology. More recently the patient presented with persistent headache and a slight limitation of neck motion. MRI studies of the cerebrum including the cervical spine showed a high cervical extradural tumor. Additional CT angiography showed a bony tumor suspected of being a spinal osteochondroma. An en bloc resection of the tumor was performed; histological evaluation confirmed the diagnosis. Immediately after intervention, all symptoms disappeared. In most patients with a spinal osteochondroma, the lesion causes no symptoms, or symptoms are aspecific. Therefore, there is often a significant delay between initial complaints and the diagnosis, as in the current case.
Cartilaginous lesions of the skeleton are very unusual. It is extremely important to correlate the roentgenographic features, the clinical features, and the histological features to arrive at a definite diagnosis. Most cartilaginous lesions are benign or of low-grade malignancy. However, there are some subtypes of chondrosarcoma that behave in a highly aggressive fashion.
This report describes an exceptional case of popliteal artery thrombosis secondary to exostosis of the superior extremity of the superior tibia in a young adult. Correct diagnosis was made during re-operation for recurrent thrombosis. Surgical treatment consisted of resection of the bony tumor and venous bypass to reestablish arterial continuity. Femoropopliteal vascular complications of exostosis are rare, with most cases involving arterial aneurysms or false aneurysms. Differential diagnosis in our young patient took into account the other causes of popliteal thrombosis: entrapped popliteal artery, adventitious cyst, fibrodysplasia, and juvenile arteriopathy. In patients with major functional disability, operative treatment is recommended to remove the bony abnormality and repair the arterial lesion.
In the past 2 years three relatively young patients were treated for a severe arterial complication due to an exostosis of the femur or tibia. A 39-year-old man had occlusion of the femoral artery, a 28-year-old man suffered from a popliteal pseudoaneurysm, and a 14-year-old boy presented with occlusion of his femoral artery while stretching his leg. An exostosis on the course of the femoral or popliteal artery, requires additional examination (duplex ultrasonography and magnetic resonance arteriography) in order to exclude an arterial disorder. If arterial compression by an exostosis is shown, an operative procedure to remove the exostosis should be performed.
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The prevalence of torus palatinus, a common exostosis with a debatable pathogenesis, was epidemiologically investigated in a group of 1002 Israeli Jews. This protuberance was observed in 21% of the entire sample, with non-significant differences among different age groups. The smooth type of torus was noted in 72.9%, 68.1% were smaller than 2 cm, and 53.8% were located in the molar area only. The prevalence of torus palatinus in the combined molar-premolar area increased with age, whereas in the molar area it decreased, expressing a significant relation between location and age (p < 0.01). The prevalence of tori larger than 2 cm was much higher in the 21-year and older age groups than in the younger groups. The diverse prevalence of torus palatinus in some of the ethnic groups was also statistically significant (p < 0.05). The aetiology of this common osseous outgrowth is probably multifactorial, including environmental factors acting in a complicated and unclear interplay with genetic factors.
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