Disappearing bone disease is also known as vanishing bone disease, phantom bone disease, massive osteolysis, Gorham’s disease or Gorham-Stout disease. Basically, it is characterised by osteolysis in (contiguous) bone segments, due to localised proliferation of thin-walled vascular channels in the bone and surrounding soft tissues. The etiology and pathophysiology of this condition remain poorly understood and largely unclear, but there is increasing evidence that disordered lymphangiogenesis plays a role. It is an extremely rare cause of osteolysis, so all other differential diagnoses should be considered and ruled out before retaining the diagnosis of disappearing bone disease. Treatment is fairly disappointing and no single treatment modality has proven effective in actually arresting the disease. Conservative treatment includes ant-resorptive agents (bisphosphonates), immunomodulating substances and radiation therapy, whereas surgical treatment options include resection and reconstruction with bone grafts and/or prostheses versus amputation. We report on the only two cases that were identified in our database between 1984 and 2008, both affecting the lower limb (one tibia, one femur). In an attempt to limb salvage, these patients initially underwent endoprosthetic replacement of the affected bone segment, but due to disease progression both eventually ended up with a hip disarticulation.
Given that the incidence of bone sarcomas is 9/million population per year, our 3000 patients represent 333 million population years. When the incidence of a condition is known in the population this allows an estimation of the risk of malignancy compared with the normal population. Retinoblastoma for instance is known to arise in 1 in 16000 births. The 7 malignancies we saw thus represents a risk to individuals with retinoblastoma of 336/million/yr – a figure 37 times the risk of the normal population. Approximate figures of risk have been calculated for other entities.
Malignant tumours of the radius compose only 3% of all upper limb tumours. Owing to their rarity they are often difficult to manage satisfactorily. Of the options for fixation available, endoprosthetic replacements have been scarcely utilized despite their success in limb preservation with malignant tumours in other parts of the body. At our centre we have used these when biological solutions (eg fibula graft) were not indicated due to extensive disease or the need for radiotherapy. We performed four endoprosthetic replacements of the distal radius in three males and one female with ages ranging from 19–66 years (average= 42.25 years of age). Two were performed for varieties of osteosarcoma (parosteal and osteoblastic osteosarcomas), one for a large destructive giant cell tumour (GCT) and one for destructive renal metastases. Three were right sided (75%) and one left sided (25%). Medical records were evaluated for information on local recurrence, metastases, complications and functional outcome using the Toronto Extremity Salvage Score (TESS). Follow up ranged from 22 to 205 months (average= 116.5 months). The average TESS score was 58.1% (range= 44.6–74.5%). Neither case of osteosarcoma recurred. The GCT recurred twice and the patient with renal metastases had nodules removed from his affected wrist on two further occasions. There were no cases of infection, but the two earlier cases had problems with metacarpal stems cutting out and jointsubluxatinos. The two earlier cases have since died at 205 (parosteal osteosarcoma) and 189 months (GCT) respectively of other disease. We conclude that although this is a very small series of endoprosthetic replacement of the distal radius, the technique is a useful addition to the surgical options, with acceptable postoperative functional results and complication rates when a biological solution or preservation of the wrist joint is not indicated.
The 38 procedures were identified from September 1995 to June 2007 and included 17 distal femoral replacements, 12 proximal femoral replacements, 4 proximal humeral replacements, 2 distal humeral replacements, 2 hemi-pelvic replacements and 1 total femoral replacement. EPR survivorship was calculated using a Kaplan-Meier survival curve. The quality of patients’ mobility and performance of activities of daily living was used to assess functional outcome.
87.4% of patients who underwent a lower limb EPR achieved a satisfactory or very satisfactory functional outcome. 100% of patients achieved a satisfactory or very satisfactory functional outcome in the upper limb EPR group. 3 implants failed, 2 as a result of infection and required staged revisions, 1 eventually requiring amputation, and 1 failed as a result of aseptic loosening. 2 patients dislocated their proximal femoral replacements, both were treated successfully by closed reduction. Despite the salvage surgery subsequent amputation was only required in one patient.
We could not show that delay in diagnosis led to a worse prognosis.
Overall cumulative patient survival was 58% at 5 years and 44% at 10 years. Locally recurrent disease occurred in 350 patients (14%), 204 patients (8%) presented with and 720 patients (30%) subsequently developed metastatic disease. Prognostic factors for locally recurrent disease were arm tumours (p=0.003, HR=0.3), hip tumours (p=0.01, HR=0.31), thigh tumours (p=0.002, HR=0.52), intralesional margins (p<
0.0001, HR=3.7), high grade tumours (p=0.03, HR=1.8), tumour size 3–6cm (p=0.04, HR=0.54) and tumour size 6–10cm (p=0.03, HR=0.63). Prognostic factors for patient survival were deep location (p=0.02, HR=1.6), high grade tumours (p<
0.0001, HR=4.7), intermediate grade tumours (p<
0.0001, HR=3.4), surgical margins (p=0.04), age at diagnosis (p<
0.0001, HR=1.02), size of tumour <
3cms (p=0.04, HR=0.29), 3–6cms (p<
0.0001, HR=0.41), 6–10cms (p=0.007, HR=0.63), no locally recurrent disease (p=0.0001, HR=0.59).
Of the 7242 patients with soft tissue lumps, 476 had a past history of malignancy. Of these patients, only 12% actually had a soft tissue metastasis while 28% had a benign diagnosis, 55% a soft tissue sarcoma and 5% other malignancy.
We identified eight patients of 2900 with a primary malignant bone tumour who had coexisting neurofibromatosis type 1. This was a much higher incidence than would be expected by chance. The patients had a mean age of 22.4 years (9 to 54): five were male. Two patients subsequently developed a second bone sarcoma, one of which was radiation induced. Four of the primary tumours were osteosarcomas, four were spindle-cell sarcomas and one a Ewing’s sarcoma. All the patients were treated with chemotherapy and surgery: six of the eight appear to be cured. This study suggests a possible relationship between neurofibromatosis type 1 and the development of a bone sarcoma, the increased risk being estimated at eight times that of the normal population. We recommend that further research into this possible link should be considered.
In our database of 7935 patients referred for investigation of a soft-tissue mass, only 100 were found to have a soft-tissue metastasis (1.3%). Our aim was to define the clinical features of such patients and to identify the site of their primary tumour. The most common presentation was a painful lump, deep to the fascia, ranging between 2 cm and 35 cm (mean 8.3 cm) with 78% of the lumps located deep to the fascia. The mean age of the patients at presentation was 64 years (22 to 84) and there were almost equal numbers of men and women. Of 53 patients with a history of malignancy, 52 had metastases from the same primary (lung in 12, melanoma in ten, kidney in nine, gastrointestinal track in four, breast in five, bladder in four, and others in eight). The other 47 had no history of malignancy and the metastasis was the first presentation. The primary sites in these cases were the lung in 19, gastro-intestinal track in four, kidney in two, melanoma in nine, other in three, and unknown (despite investigations) in ten. There was no correlation between the site of the metastases and the primary tumour. Of the 7935 patients, 516 had a history of malignancy. Of these, only 10% had a soft-tissue metastasis, 29% had a benign diagnosis, 55% a soft-tissue sarcoma and 6% another malignancy. Patients with soft-tissue metastases have similar clinical features to those with soft-tissue sarcomas and should be considered for assessment at appropriate diagnostic centres for patients with suspicious soft-tissue lumps.
We have analysed the pattern of symptoms in patients presenting with synovial sarcoma to identify factors which led to long delays in diagnosis. In 35 children, the early symptoms and the results of clinical and radiological investigation were reviewed, along with the presumed diagnoses. The duration of symptoms was separated into patient delay and doctor delay. Only half of the patients had one or more of the four clinical findings suggestive of sarcoma according to the guidance of the National Institute for Clinical Excellence at the onset of symptoms. Of the 33 children for whom data were available, 16 (48.5%) presented with a painless mass and in ten (30.3%) no mass was identified. Seven (21.2%) had an unexplained joint contracture. Many had been extensively investigated unsuccessfully. The mean duration of symptoms was 98 weeks (2 to 364), the mean patient delay was 43 weeks (0 to 156) and the mean doctor delay was 50 weeks (0 to 362). The mean number of doctors seen before referral was three (1 to 6) and for 15 patients the diagnosis was obtained after unplanned excision. Tumours around the knee and elbow were associated with a longer duration of symptoms and longer doctor delay compared with those at other sites. Delays did not improve significantly over the period of our study of 21 years, and we were unable to show that delay in diagnosis led to a worse prognosis. Our findings highlight the variety of symptoms associated with synovial sarcoma and encourage greater awareness of this tumour as a potential diagnosis in childhood.
To identify the incidence of a cortical breech on the initial presentation X-rays of patients with distal femoral GCTs, and whether this lead to a higher rate of local recurrence of tumour, a prospective database is kept of all patients seen in the unit. Initial presentation X-rays on 54 patients with distal femroal GCTs were reviewed. The size of the tumour was estimated by measuring the largest dimensions of the tumour (depth, breadth &
height). The volume of the distal femur was estimated using the same X-ray and computer programme. The X-rays were then carefully studied for evidence of a cortical breach. The records were also checked for evidence of subsequent locally recurrent disease and subsequent surgery. X-rays were reviewed on 54 patients (29 male, 25 female), range of 18–72 years. All patients had a biopsy-proven GCT of the distal femur, X-rays (prior to biopsy) were reviewed. 34 (63%) patients with a cortical breech on X-ray. The mean tumour volume: distal femoral volumes (TV:DFV) was statistically greater between those patients with a cortical breach and those without, using ANOVA (p<
0.0001). There were 13 patients with local recurrent disease but no statistical difference in subsequent local recurrence rates between the two patient groups. There was also no statistical differences between the number of operations for those who presented with a cortical breach or without. There was no evidence that more radical surgery was required if a patient presented with a cortical breach. The risk of cortical breech in patients with GCTs of the distal femur is dependant upon the tumour volume to distal femur volume ratio. If the ratio is above 54% then present with a cortical breech on X-ray is likely (95% confidence interval).There is no evidence those patients with a cortical breach have a higher rate of local recurrence, an increased number of operations or more radical surgery.
We undertook this retrospective study to determine the rate of recurrence and functional outcome after intralesional curettage for chondroblastoma of bone. The factors associated with aggressive behaviour of the tumour were also analysed. We reviewed 53 patients with histologically-proven chondroblastoma who were treated by intralesional curettage in our unit between 1974 and 2000. They were followed up for at least two years to a maximum of 27 years. Seven (13.2%) had a histologically-proven local recurrence. Three underwent a second intralesional curettage and had no further recurrence. Two had endoprosthetic replacement of the proximal humerus and two underwent below-knee amputation after aggressive local recurrence. One patient had the rare malignant metastatic chondroblastoma and eventually died. The mean Musculoskeletal Tumour Society functional score of the survivors was 94.2%. We conclude that meticulous intralesional curettage alone can achieve low rates of local recurrence and excellent long-term function.
The use of distal femoral centralising devices has been advocated in order to achieve an even cement mantle. This has been shown to improve femoral component survival but it is recognised that the presence of voids in the mantle has a deleterious effect on the mechanical strength of cement at laboratory testing and in terms of implant survival. The effect of centralising devices on the mantle in relation to the timing of stem insertion has not previously been investigated. The purpose of this study is to assess the quality of the cement mantle in artificial bone using a polished taper stem with centralisation inserted at different stages of cement cure time and using different cements. Three cement types were studied, 45‘saw bone’ models were used. The cementation was carried out in an operating theatre at constant temperature of 23.2Ê°C. The cement was mixed according to the manufacturers instructions and pressurised. Early, intermediate and late stem insertion times were determined for each cement type. The late group included stems with and without centralisers. Video recordings of the stem cement interface were made with a 4 mm endoscope after stem removal. Large cement mantle defects were noted in the ‘with centraliser’ group in 7 out of 15 late insertion times and all had small defects in the mantle. None of the ‘without centraliser’ group had cement mantle defects. Based on our results we advise surgeons to be very aware of the timing of stem insertion when using centralisers.
Endoprosthetic Replacements are one of the most commonly used types of limb salvage following surgical excision of bone tumours. The advantages of Endoprosthetic Replacements are their initial reliability and the rapid restoration of function along with their ready availability. The problems with Endoprosthetic Replacements are the long term problems of wear, loosening, infection and mechanical failure. Increasing and insolvable problems may lead to the necessity for amputation. This paper assesses the risk of amputation following Endoprosthetic Replacement. A total of 1262 patients have undergone Endoprosthetic Replacement surgery at our centre in the past 34 years. They have a total of 6507 patient years of follow up. A total of 112 patients have had subsequent amputation (8. 9%). The reasons for amputation were local recurrence in 71(64. 4%), infection in 38(33. 9%), mechanical failure in 2(1. 8%) and continued pain in 1 case (0. 8%). The risk of amputation was greatest in the proximal tibia 15. 5% (n=38/246), followed by pelvis 10. 2%(5/49), and femur 7. 4% (n=58/784), whilst the risk of amputation was least in the humerus at 6. 4% (n= 1l/182). The time to amputation varied from 2 days to 16. 3 7 years, with a mean of 31 months. The risk of amputation decreased with time although 10% of the amputations took place more than 5 years after implantation. The greatest risk of amputation is in the first 5 years and is due to local recurrence, whilst infection poses the next greatest threat. The risk decreases with time. Attempts to control both local recurrence and infection will decrease the need for amputation. Late failure of the endoprosthetic replacements, even in young patients does not seen to be a major cause of amputation thus far.
A postal questionnaire was sent to 225 GPs and 225 Orthopaedic Surgeons (Consultant and Specialist Registrars) in 20 hospitals in North West England. They were asked to give their routine clinical practice with regard to investigation of underlying osteoporosis in 3 clinical scenarios :
55 year old lady with a low trauma Colles fracture 60 year old lady with a vertebral wedge fracture 70 year old lady with a low trauma femoral neck fracture. The participants were asked whether patients over 50 years old with low trauma fractures required investigation for osteoporosis, and whether an osteoporosis Nurse Specialist would provide a beneficial service. The response rate was 52% (n=l17) from Orthopaedic Surgeons and 49% (n=l11) from GPs. Both groups agreed that patients over 50 years old with low trauma fractures required investigation for osteoporosis (81 % surgeons and 96% GPs), and that Osteoporosis Nurse Specialists may provide a beneficial Service (81% Surgeons and 94% of GPs). A majority of surgeons (56%) replied that they would routinely discharge the Colles fracture patient without requesting or initiating investigation for underlying osteoporosis. However, a majority of GPs (67%) would not investigate a similar patient for osteoporosis, unless prompted by the surgeon or patient. A greater proportion of both surgeons (71%) and GPs (64%) would routinely initiate investigations or treatment for osteoporosis in the Vertebral Wedge fracture patient. 65% of surgeons would simply discharge a patient with a femoral neck fracture after orthopaedic treatment and 40% of GPs will simply file the hospital discharge letter. Most Orthopaedic Surgeons and GPs are aware that low trauma fractures in patients over 50 years old require investigation for Osteoporosis, however, a large population of patients with Colles and Femoral Neck fractures are not being given the advantages of secondary prevention of Osteoporosis. This may lead to greater workload for Orthopaedic Surgeons in the future.