Black hip, fracture neck of femur and scoliosis: A case of ochronosis

Zacharia, Balaji; Chundarathil, Jayaprakash; Ramakrishnan, Vijayakumar; Krishnankutty, R. M.; Veluthedath, Ravikumar; Puthezhath, Kishore; Varughese, Ibin

doi:10.1007/s10545-009-1172-2

Cited by 8 publications

(6 citation statements)

References 19 publications

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“…Patients with ochronosis are more prone to fractures due to decreased BMD. One case report highlights a patient who suffered a fracture of the left femur neck following a trivial fall (22).…”

Section: Discussionmentioning

confidence: 99%

Musculoskeletal manifestations of alkaptonuria: A case report and literature review

Bauer

Myung

et al. 2019

Eur J Rheumatol

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Alkaptonuria (AKU) is a rare autosomal recessive disorder that results from the deficient activity of homogentisate 1,2-dioxygenase and leads to increased levels of homogentisic acid (HGA) and its oxidized product benzoquinone acetic acid (BQA). Both HGA and BQA form polymerized deposits that lead to a bluish-black discoloration of the cartilage as well as degeneration, inflammation, and calcification of the tendons, ligaments, intervertebral discs, and large joints and increased bone resorption. A brittle and fragmented cartilage forms and leads to aberrant loading of the subchondral bone. These fragments then adhere to the synovial membrane and cause fibrosis or chondromatosis, leading to ochronotic arthropathy. Ochronotic tendinopathy most commonly affects the patellar or Achilles tendon and can lead to enthesopathy or spontaneous tendon ruptures. Ochronotic pigments deposited in the bone impair the bone mineralization process and lead to osteopenia or osteoporosis. Here, we report a case of a patient with several musculoskeletal manifestations of AKU and reviewed the literature to summarize the pathophysiology, clinical characteristics, and radiologic findings of the rheumatic features of AKU. Though medical treatment options are limited, early identification of AKU can facilitate prompt surgical intervention.

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Section: Discussionmentioning

confidence: 99%

Musculoskeletal manifestations of alkaptonuria: A case report and literature review

Bauer

Myung

et al. 2019

Eur J Rheumatol

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“…There is no evidence that nitisinone stabilises BMD or prevents fractures in AKU. Furthermore, there is no evidence that oral bisphosphonates, can reverse the bone loss process or prevent fractures in ochronotic osteoporosis, even though it is used as the mainstay of treatment ( Aliberti et al, 2007 ; Zacharia et al, 2009 ). A recent study of 87 patients (55 men and 32 women) attending the United Kingdom National Alkaptonuria Centre at the Royal Liverpool University Hospital (NAC) revealed a high risk of bone loss and fractures in AKU ( Ranganath et al, 2021 ).…”

Section: Introductionmentioning

confidence: 99%

Treatment of osteoporotic fractures in alkaptonuria by teriparatide stimulates bone formation and decreases fracture rate – A report of two cases

et al. 2021

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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.

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“…Ochronosis is a very rare genetic disorder found in few people in millions. The patient usually present in forth decade of life with blackening of urine, dark pigmentation of tissue in sclera, ear, nose, and skin due to accumulation of homogentisic acid [ 8 ]. It can be diagnosed by determination of homogentisic acid in urine.…”

Section: Discussionmentioning

confidence: 99%

Rare Case of Ochronosis with Fracture of Intracapsular Neck of Femur and Scoliosis: A Case Report

Arvind¹,

Singh²,

Sudarshan³

et al. 2023

JOCR

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Introduction: Ochronosis is a rare syndrome caused by accumulation of homogentisic acid in connective tissue due to deficiency of enzyme homogentisic acid oxidase. It characterized by blue-black pigmentation connective tissues such as sclera, cartilage of ear, and synovium of joints and it causes destruction of joints cartilage and early arthritis. Urine becomes dark coloured on prolonged standing. Some patient may develop rare cardiac manifestation due to accumulation of homogentisic acid on valves. Case Report: A 56-year-old female admitted with neck of femur fracture after history of fall at home. The patient was having chronic back ache and knee pain. Plain radiograph of knee and spine showed severe arthritic changes. Exposure during surgery was difficult due to hard and brittle tendons and capsule of joint. Femur head and acetabulum cartilage appeared dark brown. Dark brown pigmentation of sclera and hands was found on clinical examination postoperatively. Conclusion: Patients with ochronosis usually develop early osteoarthritis and spondylosis which should be differentiated from other causes of early arthritis such as rheumatoid arthritis and seronegative arthritis. It leads to destruction of joint cartilage and weaking subchondral bone which leads to pathological fracture. And due to stiffness of soft-tissue around joint exposure during surgery can be challenging. Keywords: Fracture neck of femur, dark brown cartilage, arthritis, pathological fracture, ochronosis.

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Black hip, fracture neck of femur and scoliosis: A case of ochronosis

Abstract: We report a case of scoliosis, fracture of the neck of the femur and ochronosis occurring together in a patient.

Cited by 8 publications

References 19 publications

Musculoskeletal manifestations of alkaptonuria: A case report and literature review

Musculoskeletal manifestations of alkaptonuria: A case report and literature review

Treatment of osteoporotic fractures in alkaptonuria by teriparatide stimulates bone formation and decreases fracture rate – A report of two cases

Rare Case of Ochronosis with Fracture of Intracapsular Neck of Femur and Scoliosis: A Case Report

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