A Large Skull Defect Due to Gorham-Stout Disease: Case Report and Literature Review on Pathogenesis, Diagnosis, and Treatment.

A 24-year old man was referred to the Erasmus MC Bone Center because of an asymptomatic increasing skull defect of the left parietal bone. The defect was first noticed at the age of six, and gradually increased over the years. His medical history was unremarkable, without any known trauma and a negative family history for bone diseases. Laboratory tests showed a low vitamin D level without other abnormalities. Particularly, there was no increase in markers of inflammation or bone turnover. CT-scans of the skull showed an osteolytic region of the parietal skull bone, with a two-centimeter increase in diameter over 9 years. Contrast enhanced MRI showed lymphangiogenic invasion, which was compatible with our suspicion of Gorham-Stout disease. The patient was referred to the neurosurgeon for treatment with a bone graft while considering additional drug treatment. Gorham-Stout or vanishing bone disease is a rare entity characterized by progressive osteolysis with lymphangiogenic bone invasion. Although already reported in 1838, currently the diagnosis and treatment of Gorham-Stout disease is still challenging. The underlying pathophysiology is not clarified yet and several theories exist. The disease usually affects persons younger than 40 years and the majority present with bone disease of the maxillofacial region, the upper extremities or the torso. The clinical presentation includes most frequently pain, swelling, and functional impairment of the affected region, but the disease can also be asymptomatic. Laboratory investigations are usually normal, and diagnosis is based upon imaging and sometimes pathology examination of affected bone tissue. Treatment is experimental and there is no general consensus about the best option due to lack of randomized controlled trials. Case reports showed patients treated with bisphosphonates, interferon-alpha, anti-VEGF therapy, mTOR inhibitors, and radiotherapy. There are some reports of surgery with prosthetic or bone grafts but no long-term follow-up data exist. This paper describes a unique case of Gorham-Stout disease of the parietal skull bone and discusses the current state of knowledge about this rare bone disease.

Accuracy of magnetic resonance imaging to detect cartilage loss in severe osteoarthritis of the first carpometacarpal joint: comparison with histological evaluation.

BACKGROUND: Magnetic resonance imaging (MRI) is increasingly used for research in hand osteoarthritis, but imaging the thin cartilage layers in the hand joints remains challenging. We therefore assessed the accuracy of MRI in detecting cartilage loss in patients with symptomatic osteoarthritis of the first carpometacarpal (CMC1) joint. METHODS: Twelve patients scheduled for trapeziectomy to treat severe symptomatic osteoarthritis of the CMC1 joint underwent a preoperative high resolution 3D spoiled gradient (SPGR) MRI scan. Subsequently, the resected trapezium was evaluated histologically. The sections were scored for cartilage damage severity (Osteoarthritis Research Society International (OARSI) score), and extent of damage (percentage surface area). Each MRI scan was scored for the area of normal cartilage, partial cartilage loss and full cartilage loss. The percentages of the total surface area with any cartilage loss and full-thickness cartilage loss were calculated using MRI and histological evaluation. RESULTS: MRI and histological evaluation both identified large areas of overall cartilage loss. The median (IQR) surface area of any cartilage loss on MRI was 98% (82-100%), and on histological assessment 96% (87-98%). However, MRI underestimated the extent of full-thickness cartilage loss. The median (IQR) surface area of full-thickness cartilage loss on MRI was 43% (22-70%), and on histological evaluation 79% (67-85%). The difference was caused by a thin layer of high signal on the articulating surface, which was interpreted as damaged cartilage on MRI but which was not identified on histological evaluation. CONCLUSIONS: Three-dimensional SPGR MRI of the CMC1 joint demonstrates overall cartilage damage, but underestimates full-thickness cartilage loss in patients with advanced osteoarthritis.

Metric properties of advanced imaging methods in osteoarthritis of the hand: a systematic review.

OBJECTIVE: To assess the value of advanced imaging techniques in the detection of hand osteoarthritis (OA) and hand OA progression. METHODS: PubMed/Medline and Embase were searched until April 2012 for studies on imaging of hand OA that presented quantitative data on validity, reliability or responsiveness. Articles presenting only data on conventional radiography (CR) were excluded. Methodological quality was assessed by the Quality Assessment of Diagnostic Accuracy Studies (QUADAS) checklist for validity, the Quality Appraisal of Reliability Studies (QAREL) for reliability and the COSMIN (COnsensus-based Standards for the selection of health Measurement INstruments) for responsiveness. RESULTS: Of 627 citations, 25 studies on ultrasonography (US), MRI or scintigraphy were included. No studies on CT, positron emission tomography or single photon emission CT met our eligibility criteria. Validity was generally assessed against healthy controls, CR or clinical examination. Overall, US and MRI detected more disease than CR and found significant differences between patients and healthy controls. Scintigraphy detected fewer pathological joints than CR. Intra- and inter-reader reliability varied for US (κ=0.01-1.0) and MRI (κ=0.15-0.84 and intraclass correlation coefficient=0.21-0.99) and was good for scintigraphy (κ=0.61-0.84). There were no responsiveness studies for MRI. US responsiveness studies showed a reduction of soft-tissue changes after treatment which correlated with decrease in pain (r=0.7-0.8). For scintigraphy, scores decreased over time while CR showed progression of hand OA. CONCLUSIONS: MRI and US seem to be the most promising candidates for early detection of hand OA and for future use in clinical trials. However, further research is needed to improve scoring methods, to compare US with MRI, to confirm reliability of MRI and to further determine the responsiveness of US and MRI.

Computed tomography for the detection of thumb base osteoarthritis: comparison with digital radiography.

OBJECTIVE: To compare computed tomography (CT) with digital radiography for the detection of osteoarthritis (OA) of the first carpometacarpal (CMC1) and scaphotrapeziotrapezoid (STT) joint. MATERIALS AND METHODS: We retrospectively identified patients who were assessed for CMC1 OA or STT OA at our hand surgery outpatient clinic between January 2008 and March 2011, and who had both a digital radiograph and a CT scan of the hand within a 3-month period. CT and radiographic images were scored independently by two musculoskeletal radiologists for joint space narrowing (JSN), osteophytes, subchondral sclerosis, bone cysts, and erosions in the CMC1 and STT joints. RESULTS: Thirty patients were identified. The inter-reader reliability of CT for the detection of CMC1 OA (ICC 1.00) and STT OA (ICC 0.80) was higher than radiography (ICC's 0.15 and 0.45). In comparison with their own radiographical scoring, both readers detected with CT 3 more patients with CMC1 OA, and 13 and 5 more patients with STT OA. CONCLUSION: Computed tomography had a higher inter-reader reliability and detection rate for both CMC1 and STT OA, compared with radiography. As surgical treatment selection of thumb base OA depends on the presence of pathology in the CMC1 and STT joints, CT may improve treatment selection and surgical planning.