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Radiologic manifestations in alcaptonuria.

Alcaptonuria is a rare, hereditary disorder of amino acid metabolism, secondary to lack of homogentisic acid oxydase . As a consequence, there is an accumulation of homogentisic acid, which is excreted in the urine and deposited in the connective tissues. This deposition results in ochronotic pigmentation and arthropathy, of which some characteristic radiological findings are demonstrated.

Alkaptonuria↗

The concept of osteoarthrotic remodelling as illustrated by ochronotic arthropathy of the hip. An anatomico-radiological approach.

This report is an anatomico-radiological study of six femoral heads excised from four patients with diffused ochronotic arthropathy. In one case a biopsy specimen taken eleven years earlier was also studied. The deterioration of the ochronotic cartilage involves a fragmentation process reflected by histological characteristics that are different from those observed in common "cartilaginous degeneration". The fragments resulting from this process become embedded in the remodelled bone-marrow tissue of the weight-bearing zone and in the synovial membrane. Except for the presence of pigmented cartilage, the intrinsic osteogenic remodelling and the extrinsic osteophytic remodelling (the latter often appearing in the form of minor equivalents) are similar to that of the common form of osteoarthrotic remodelling. The pigment labelling of the ochronotic cartilage provides a particularly favorable opportunity to study the general problem of osteoarthrotic remodelling; it facilitates the differentiation between newly formed and preexisting tissue and consequently our understanding of the entire process. An anatomico-radiological approach provides an explanation for the similarity frequently observed on X-rays between ochronotic and rheumatoid hip arthropathies.

Aged↗

Ochronotic arthropathy.

Ochronotic arthropathy is the musculoskeletal manifestation of alkaptonuria. an uncommon inherited metabolic disorder associated with various clinical and radiologic abnormalities due to the deposition of homogentisic acid. We report on a 35-year-old man with ochronotic arthropathy who presented with the main characteristic radiological findings. The differential diagnosis of this rare condition is discussed with a review of the literature.

Adult↗

Ochronotic arthropathy, an approach to osteoarthritis bone remodelling.

The objective is to use hip ochronotic arthropathy for an indirect approach to osteoarthritis bone remodelling in a human joint via an identified causal chondropathy. The method is via radiology connecting pathology and nosology, based on the study of seven ochronotic femur heads excised in alcaptonuric patients. Due to the brittleness of ochronotic cartilage, bone remodelling similar to that of hip osteoarthritis exists with diffuse narrowing of the interarticular space and (except in one case modified by intermediary surgery) poorly developed osteophytes. Ochronotic arthropathy is only a privileged model of osteoarthritis bone remodelling, the pathology of which might well evidence the stages of the process, with marking by pigmented cartilage remnants Thus it may lead to various reflections in rheumatology, among others concerning the respective radiological hip images of osteoarthritis and rheumatoid arthritis. The use of the pathology-radiology files provided by hip surgery of ochronotic arthropathy might offer a useful reference model for investigating various aspects of osteoarthritis.

Arthritis, Rheumatoid↗

Pseudogout.

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Acromegaly↗