Chronic tophaceous gout mimicking widespread metastasis.

Gout is a common crystal-induced arthropathy affecting mainly the joints of the appendicular skeleton; however, rarely this condition affects the axial skeleton as well. Spinal gout can cause radiculopathy, cord compression, canal stenosis and discitis. We describe a case of a 71-year-old woman where the initial presentation of destructive arthropathy and spinal masses secondary to axial gout was mistaken for a metastatic malignancy. Despite chronic polyarthropathy and bilateral subcutaneous gouty tophi, spinal gout was not considered a differential diagnosis during initial assessment.The patient was managed conservatively with pharmacological treatment resulting in improvement of her upper limb radiculopathy and systemic joint pain, although little improvement in mobility. Such extensive involvement is rare and the masses can mimic an underlying metastatic disease. Careful history and clinical examination recognising polyarthropathy and subcutaneous tophi can aid the clinician to make the right diagnosis and institute correct treatment. Delay in recognising gout as a differential diagnosis can lead to marked morbidity as illustrated in our case.

Erdheim-Chester Disease: Two cases from an ophthalmic perspective.

PURPOSE: We report two patients who presented initially to ophthalmology clinics with symptoms and signs of orbital inflammation that led to a diagnosis of Erdheim-Chester Disease (ECD). OBSERVATIONS: ECD is a rare form of non-Langerhans cell histiocytosis (LCH) which is characterised by multi-system organ involvement and poor prognosis with standard therapies. Both patients were positive for the BRAF V600E mutation on genetic testing and were treated with the BRAF inhibitors Vemurafenib and Dabrafenib respectively. These cases highlight the variable clinical presentation and course of ECD, the classical radiological and histopathological findings, and the high degree of clinical suspicion necessary to reach this diagnosis. CONCLUSIONS AND IMPORTANCE: The combination of xanthelasma and bilateral, diffuse intraconal orbital masses must suggest to the clinician the possibility of ECD; and consideration to arrange further investigation with a full body CT or FDG PET/CT scan should be given, even in the absence of wider systemic symptoms or signs. With the advent of targeted therapies such as BRAF inhibitors, it is of even more importance that a diagnosis of ECD is established in a timely manner in order to give these patients the best chance of reduced morbidity and increased survival.

Rare cause of respiratory failure in a young woman: isolated diffuse alveolar haemorrhage requiring extracorporeal membrane oxygenation.

A previously healthy 21-year-old young woman presented with worsening dyspnoea and haemoptysis. Imaging was suggestive of widespread pulmonary haemorrhage. There was no other organ system involvement in particular no evidence of renal involvement. Raised antimyeloperoxidase titres allowed diagnosis of isolated diffuse alveolar haemorrhage (DAH) secondary to microscopic polyangiitis (MPA). The patient rapidly deteriorated with worsening respiratory failure despite invasive mechanical ventilation and required extracorporeal membrane oxygenation (ECMO). This maintained the patient long enough to allow aggressive therapy in the form of immunosuppression and plasma exchange. She made a remarkable recovery and is asymptomatic 2 years on. Isolated DAH in the absence of renal disease is an atypical presentation of MPA and can lead to diagnostic uncertainty. A literature review reveals increasing reports of successful use of ECMO in severe DAH due to pulmonary vasculitis. Despite this, the need for systemic anticoagulation in the presence of pre-existing haemorrhage remains a challenging dilemma.

The importance of "His" story.

A 73-year-old previously healthy man presented with a 3-day history of rigours, abdominal pain, diarrhoea, haemoptysis and myalgia. He had not been abroad recently, but reported being a farmer and having had a recent rat infestation. Laboratory investigations revealed acute kidney failure, deranged liver function tests, raised C reactive protein and a chest CT revealed bilateral ground-glass opacities. This presentation was consistent with icteric leptospirosis which was confirmed by serological testing. Following haemofiltration and the administration of antibiotics the patient made an excellent recovery from his leptospirosis.

Hand surgery for Multicentric Reticulohistiocytosis: A new avenue of treatment and review of the literature.

INTRODUCTION: Multicentric Reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterised by destructive polyarthritis and violaceous skin papules. PRESENTATION OF CASE: In 2010, a 70-year-old woman with Palindromic Rheumatism was diagnosed with MRH. Within a few months, she developed ankylosis of the small joints of both hands which resulted in severe fixed flexion deformities of the fingers and thumbs. The joint disease failed to respond to medical therapies and the palmar skin of her left hand was becoming increasingly macerated. Therefore, she elected to undergo arthrodesis of the metacarpophalangeal joints to allow hand hygiene. DISCUSSION: To-date, this is the first report of a surgical intervention for this rare condition and represents a novel avenue of potential therapy. Medical therapies for MRH are usually ineffective in preventing the debilitating small joint disease which often develops and there is on-going research into newer agents and alternative surgical techniques. CONCLUSION: Once medical therapies are exhausted, clinicians should consider the input of Hand Surgeons in managing the inevitable and mutilating joint disease of this rare condition.

A difficult case of fever of unknown origin.

A 57-year-old holidaymaker in Madeira was airlifted to England with a 4-week history of fever, limb weakness and hypophonia. Having undergone a range of investigations during his hospital admission abroad - including ultrasound, CT, echocardiogram and lumbar puncture - the patient arrived without any explanatory diagnosis. At presentation, the only investigatory positives were raised blood inflammatory markers and a, previously unidentified, 'old left frontal infarct' found on head CT. A broad infective and immunological screen proved negative, raising the possibility of vasculitis. Finally, the presence of subacute cerebral and renal infarcts identified on MRI and CT in combination with a negative antineutrophil cytoplasmic antibodies (ANCA) test and distinctive muscle biopsy features confirmed the clinical suspicion of polyarteritis nodosa. An immunosuppressive regime of glucocorticoid therapy and cyclophosphamide were initiated with immediate significant clinical improvement.