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BackgroundAlkaptonuria (AKU) is present from birth, yet clinical effects are considered to appear later in life. Morbidity of AKU, considered irreversible, is secondary to ochronosis. Age of ochronosis onset is not clearly known. Nitisinone profoundly lowers homogentisic acid (HGA), the metabolic defect in AKU. Nitisinone also arrests ochronosis and slows progression of AKU. However, tyrosinaemia post-nitisinone has been associated with corneal keratopathy, rash and cognitive impairment in HT 1. The optimal time to start nitisinone in AKU is unknown.MethodsIn an open, cross-sectional, single-site study, 32 patients with AKU were to be recruited. The primary outcome was presence of ochronosis in an ear biopsy. Secondary outcomes included analysis of photographs of eyes/ears, serum/urine HGA, markers of tissue damage/inflammation/oxidation, MRI imaging, gait, quality of life and Alkaptonuria Severity Score Index (qAKUSSI).ResultsThirty patients, with mean age (SD) 38 (14) years, were recruited. Percentage pigmentation within ear biopsies increased with age. Ear pigmentation was detected in a 20-year-old woman implying ochronosis can start in patients before the age of 20. Gait and qAKUSSI were outside the normal range in all the patients with AKU.ConclusionsOchronosis can be present before age 20 years.

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Non-focal hip and groin pain can frequently be a diagnostic problem, particularly if it is related to uncommon causes such as ischiofemoral impingement. The vast majority of published cases of ischiofemoral impingement are caused by osseous changes of the ischiofemoral interval. We describe an unusual case of ischiofemoral impingement caused by an intermuscular lipoma. Surgical resection of the tumour and histology confirmed the lipomatous nature of the tumour, with subsequent resolution of symptoms. To the best of our knowledge, this is the first case of a lipoma causing ischiofemoral impingement described in the English literature and emphasises that impingement can occur on the basis of a soft tissue mass occupying the interval of otherwise normal osseous interval and boundaries.

Melorheostosis is a rare, nonhereditary, benign, mesenchymal condition of unknown aetiology affecting the bones and surrounding tissues. A male patient complaining of left shoulder pain, swelling, and mildly limited range of motion has an exclusive combination of the classic dripping wax lesion in the scapula and the myositis ossificans-like lesion in the deltoid muscle; this combination is the first to be reported in the shoulder. Both lesions showed typical findings of melorheostosis in radiographs, CT, MRI, and bone scan. This case has a stationary course over the follow-up period, and no specific treatment is needed in due course.

We report a very rare case of giant schwannomas of the sciatic nerve in a 39-year-old woman who presented with increasing swelling and discomfort in the posterior aspect of her right thigh. We demonstrate that even with such large tumours, surgical excision could be successfully carried out to resolve all symptoms while causing no permanent nerve damage. It remains paramount that large soft tissue tumours get referred to a sarcoma centre and be managed by a specialist multidisciplinary team.

NaF PET/CT hybrid fusion imaging is extremely useful in identifying potential causes of pain in patients with malignancies that have an affinity for skeletal metastases. This technique can help detect bone metastases, in problem solving, and to direct appropriate management.

Two cases of advanced alkaptonuria (AKU) with co-existing osteoporosis are described. Case 1 developed multiple non-vertebral fragility fractures, while Case 2 developed vertebral fragility fractures, both refractory to bisphosphonates. Difficulties in diagnosing osteoporosis in AKU complicated by extensive calcifying and ossifying spondylosis are discussed. Both patients continued to fracture despite nitisinone therapy for metabolic control of AKU, as well as bisphosphonate antiresorptive therapy for osteoporosis. Subsequently the patients were treated with teriparatide 20 μg subcutaneous injections daily for two years, leading to reduction in fractures soon after commencing therapy in both cases. Markers of bone remodelling P1NP and CTX were stimulated. No complications due hypercalcaemia or calcification were encountered in either case. We conclude that teriparatide is an effective adjunct in the treatment of AKU when bisphosphonates prove ineffective.