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Blau syndrome (BS) is a rare autosomal dominant familial granulomatous inflammatory disease presenting in early childhood with dermatitis, arthritis and uveitis. Early-onset sarcoidosis represents the sporadic form, and both are characterised by mutations in the CARD15/NOD2 gene on chromosome 16. We describe a 38-year-old man with known BS who presented for orthopaedic review following right-sided patellar dislocation. MRI of the injured knee demonstrated diffuse synovitis and prominent fatty tissue resembling lipoma arborescens with evidence of recent patellar dislocation. Synovectomy was performed and confirmed granulomatous synovitis. Knee imaging findings are described for the first time. Combining distinct morphological bone changes with synovitis which resembles lipoma arborescens and histology which includes sarcoidal-type granulomatous synovitis should lead the radiologist and pathologist to consider the diagnosis of BS.

Objective To describe the imaging and histopathological findings and provide an overview of a recently described and rare cause of bone sclerosis. Materials and methods Five cases of intra-osseous hibernoma of bone that presented over the last year. The imaging and histopathology is reviewed. Results All cases were identified in asymptomatic middle-aged to elderly adults as incidental findings with bone sclerosis in the axial skeleton. MRI showed lesions that were T1 hypointense to subcutaneous fat and hyperintense to skeletal muscle and one showed contrast enhancement. Glucose avidity was demonstrated on FDGPET in both cases tested and isotope bone scan performed in three cases showed strong positivity in two, but uptake was inconspicuous in one case. Conclusions Intra-osseous hibernoma is a rare cause of sclerotic bone lesions, predominating in the axial skeleton of middle-aged and elderly adults. They have a non-aggressive appearance on CT and on MRI are T1 hypointense to subcutaneous fat and hyperintense to skeletal muscle. They are usually T2 hyperintense and may show peripheral contrast enhancement. They may show increased glucose avidity on FDGPET and may or may not be positive on isotope bone scans. We suspect that with ever-increasing use of a variety of imaging techniques, particularly in a setting of staging for malignant disease, more such cases will come to light. This diagnosis should be added to the differential diagnosis of sclerotic bone lesions.

Intra-articular tumours are uncommonly encountered in routine practice and may present diagnostic challenges to pathologists. Challenges unique to this site include distinction from more common reactive synovial conditions, which are far more common; histologic variability; superimposed reactive changes; and often, lack of provided clinicoradiological context. This article reviews the pathology of the synovial tumours and tumour-like lesions, including diagnostic pearls, pitfalls and rare entities.

Fibrogenesis imperfecta ossium is a rare disorder of bone usually characterized by marked osteopenia and associated with variable osteoporosis and osteosclerosis, changing over time. Histological examination shows that newly formed collagen is abnormal, lacking birefringence when examined by polarized light. The case presented demonstrates these features and, in addition, a previously undocumented finding of a persistent marked reduction of the serum C3 and C4. Osteoblasts established in culture from a bone biopsy showed abnormal morphology on electron microscopy and increased proliferation when cultured with benzoylbenzoyl-ATP and 1,25-dihydroxyvitamin D, contrasting with findings in normal osteoblasts in culture. A gene microarray study showed marked upregulation of the messenger RNA (mRNA) for G-protein-coupled receptor 128 (GPR 128), an orphan receptor of unknown function and also of osteoprotegerin in the patient’s osteoblasts in culture. When normal osteoblasts were cultured with the patient’s serum, there was marked upregulation of the mRNA for aquaporin 1.

Low-grade central osteosarcoma (LGCOS) is a rare variant of osteosarcoma. We present a rare case of multifocal LGCOS located in two distinct skeletal sites, initially noted as incidental findings on imaging for distant traumatic pathology. Both sites seemed small and innocuous on initial imaging, and were quiescent clinically, illustrating the value of close interval multimodal surveillance scanning.

BackgroundFollowing the thalidomide disaster (1958–62), Henkel and Willert analysed the pattern of dysmelia in the long bones (J Bone Joint Surg Br. 51:399–414, 1969) and the extremities, Willert and Henkel (Z Orthop Ihre Grenzgeb. 107:663–75, 1970). Willert’s material from deformed extremities is re-examined here asking “How does thalidomide reduce the skeleton?”Materials and methodsWe reviewed the original data collection of Willert and Henkel (Z Orthop Ihre Grenzgeb. 107:663–75, 1970), comprising musculoskeletal histology slides from 30 children affected by thalidomide with radiographs of hands (19 cases) and feet (4 cases).ResultsAll original observations by Willert and Henkel (Z Orthop Ihre Grenzgeb. 107:663–75, 1970), were verified. Radial rays of the hand disappeared early, but the foot was spared until late. Radiology confirms that bone reduction in the hand (aplasia or hypoplasia in the thumb and index finger) coincides with sensory segmental nerve C6. In the foot, reduction of the toes is rare, but mesenchymal excess (polydactyly) occurs in the hallux (L5 sclerotome), usually associated with absent tibia (L4 sclerotome). Histology confirms skeletal mesenchymal components to be unremarkable, contrasting with grossly abnormal bony architecture, a striking discordance between microscopic and macroscopic findings. No necrosis or vascular pathology was seen.ConclusionThe basic lesion was an abnormal quantity rather than quality of mesenchyme. Cell populations result from cellular proliferation, controlled in early limb bud formation by neurotrophism. Thalidomide is a known sensory neurotoxin in adults. In the embryo, sensorineural injury alters neurotrophism, causing increased or diminished cell proliferation in undifferentiated mesenchyme. Differentiation into normal cartilage occurs later, but within an altered mesenchymal mass. Reduction or excess deformity results, with normal histology, a significant finding. The primary pathological condition is not in the skeleton, but in the nerves.

The retention of foreign bodies after surgery is rare, but carries significant morbidity and mortality as well as financial and legal implications. Such retained items cause a foreign-body reaction, which in the case of cotton-based materials are called gossypibomas. We present the case of an 84-year-old woman with a pseudotumor secondary to a retained dressing gauze roll, presenting 5 months after resection of a gluteal sarcoma, which had raised concerns of local recurrence. We also outline the imaging modalities that may assist in diagnosis of a retained foreign body, and suggest the MRI “row of dots” sign as a useful radiological feature associated with gossypiboma. Awareness of the imaging appearances of retained foreign bodies allows the inclusion of this possibility in differential diagnosis of a mass in patients with a surgical history.

We previously reported the 5-year results of the phase 3 IBCSG 23-01 trial comparing disease-free survival in patients with breast cancer with one or more micrometastatic (≤2 mm) sentinel nodes randomly assigned to either axillary dissection or no axillary dissection. The results showed no difference in disease-free survival between the groups and showed non-inferiority of no axillary dissection relative to axillary dissection. The current analysis presents the results of the study after a median follow-up of 9·7 years (IQR 7·8–12·7). In this multicentre, randomised, controlled, open-label, non-inferiority, phase 3 trial, participants were recruited from 27 hospitals and cancer centres in nine countries. Eligible women could be of any age with clinical, mammographic, ultrasonographic, or pathological diagnosis of breast cancer with largest lesion diameter of 5 cm or smaller, and one or more metastatic sentinel nodes, all of which were 2 mm or smaller and with no extracapsular extension. Patients were randomly assigned (1:1) before surgery (mastectomy or breast-conserving surgery) to no axillary dissection or axillary dissection using permuted blocks generated by a web-based congruence algorithm, with stratification by centre and menopausal status. The protocol-specified primary endpoint was disease-free survival, analysed in the intention-to-treat population (as randomly assigned). Safety was assessed in all randomly assigned patients who received their allocated treatment (as treated). We did a one-sided test for non-inferiority of no axillary dissection by comparing the observed hazard ratios (HRs) for disease-free survival with a margin of 1·25. This 10-year follow-up analysis was not prespecified in the trial's protocol and thus was not adjusted for multiple, sequential testing. This trial is registered with ClinicalTrials.gov, number NCT00072293. Between April 1, 2001, and Feb 8, 2010, 6681 patients were screened and 934 randomly assigned to no axillary dissection (n=469) or axillary dissection (n=465). Three patients were ineligible and were excluded from the trial after randomisation. Disease-free survival at 10 years was 76·8% (95% CI 72·5–81·0) in the no axillary dissection group, compared with 74·9% (70·5–79·3) in the axillary dissection group (HR 0·85, 95% CI 0·65–1·11; log-rank p=0·24; p=0·0024 for non-inferiority). Long-term surgical complications included lymphoedema of any grade in 16 (4%) of 453 patients in the no axillary dissection group and 60 (13%) of 447 in the axillary dissection group, sensory neuropathy of any grade in 57 (13%) in the no axillary dissection group versus 85 (19%) in the axillary dissection group, and motor neuropathy of any grade (14 [3%] in the no axillary dissection group vs 40 [9%] in the axillary dissection group). One serious adverse event (postoperative infection and inflamed axilla requiring hospital admission) was attributed to axillary dissection; the event resolved without sequelae. The findings of the IBCSG 23-01 trial after a median follow-up of 9·7 years (IQR 7·8–12·7) corroborate those obtained at 5 years and are consistent with those of the 10-year follow-up analysis of the Z0011 trial. Together, these findings support the current practice of not doing an axillary dissection when the tumour burden in the sentinel nodes is minimal or moderate in patients with early breast cancer. International Breast Cancer Study Group.

A case of epithelioid and spindle cell haemangioma of bone occurring in the proximal femur is presented. The tumour had typical microscopic features with a striking lobular pattern comprising spindled and epithelioid areas with admixed inflammatory cells. The case represents only the eighth reported example of this rare tumour, which appears to fit in the spectrum of epithelioid haemangioma. This is the first case to involve the proximal portion of a long bone. A review of the classification and features of similar vascular tumours of bone is presented.