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PubMed1997

[Alkaptonuria, prostatic calculi, and ectopic ureter].

Alkaptonuria is an uncommon tyrosine metabolism disorder. Deficit of homogentisic acid oxidase leads to the elimination of large amounts of homogentisic acid in the urine with accumulation of homogentisic acid oxidized pigment in the connective tissue (ochronosis). The ultimate evolution of ochronosis is degenerative arthritis. The clinical case reported is a 57-year old male diagnosed with alkaptonuria in an early stage of the connective tissue disease who comes to the clinic due to a lower urinary obstructive syndrome secondary to benign prostate hyperplasia but is diagnosed with giant prostate lithiasis. The patient undergoes retropubic adenomectomy with lithiasis removal and re-implantation of ectopic ureter from a dual left excretory system. Clinical evolution is completely successful. The rarity of the case calls for circulation and revision of the clinical and therapeutical aspects of this entity.

Alkaptonuria↗
PubMed1985

Ochronotic cardiovascular disease.

Ochronosis is a disease of tyrosine metabolism. Although most commonly associated with alcaptonuria and spondyloarthropathy, cardiovascular abnormalities have been associated. We describe a case which exemplifies the cardiovascular findings in this entity.

Aged↗
PubMed1995

Ochronotic arthropathy: rapid destructive hip osteoarthritis associated with metabolic disease.

Ochronosis is a musculoskeletal manifestation of alkaptonuria, an inherited metabolic disorder associated with various systemic abnormalities related to the deposition of homogentisic acid pigment in connective tissues. This report describes a 58-year-old woman with ochronotic arthropathy who, in addition to the typical clinical features of the disorder, presented with rapidly progressive hip osteoarthritis. The destruction of the joint architecture and the severe functional impairment necessitated a total hip replacement which resulted in a satisfactory outcome.

Alkaptonuria↗
PubMed2005

Arthroscopic treatment of shoulder ochronotic arthropathy: a case report and review of literature.

Alcaptonuria is an inherited hereditary metabolic disorder, which is associated with various systemic abnormalities and related to the accumulation of homogentisic acid and a derived melanine-like pigment in the connective tissues; the latter is termed ochronosis. We present the arthroscopic findings in the shoulder of a 58-year-old female with ochronotic arthropathy and discuss the role of arthroscopy in the diagnosis and management of this rare metabolic disorder.

Alkaptonuria↗
PubMed1999

Ochronotic arthropathy: case report and review of the literature.

Alkoptonuria is an inherited metabolic disorder which is associated with various systemic abnormalities and related to the deposition of homogentisic acid pigment in connective tissues. These pigmentary changes are termed "ochronosis". We describe two patients with ochronotic arthropathy who presented with progressive and advanced degenerative changes in the lumbo-sacral spine. The literature, differential diagnosis and management of this rare condition are reviewed in this article. Management is usually conservative, but replacement surgery may be offered for severely affected major joints.

Adult↗
PubMed2004

Ochronotic arthritis: case reports and review of the literature.

Alkoptunuria is an inherited autosomal recessive metabolic disorder which is caused by the lack of homogentisic acid-oxidase enzyme. It is associated with various systemic abnormalities and related to the deposition of homogentisic acid pigment in connective tissues. These pigmentary changes are termed "ochronosis". We describe two patients with ochronotic arthritis who presented with advanced degenerative changes in the lumbo-sacral spine, knee and hip. The literature, differential diagnosis and management of this rare condition are reviewed in this article.

Aged↗
PubMed2006

Bisphosphonate treatment in ochronotic osteoporotic patients.

In ochronotic patients, abnormalities in bone metabolism leading to increased bone loss have been reported. Therefore, we attempted antiresorptive therapy to (almost) partially reverse bone loss in four out of five osteopenic or osteoporotic ochronotic patients, two men and two women, aged 56-82 years. Each patient was treated with a 70-mg tablet of alendronate weekly and 1,000 mg/day of elemental calcium, such as gluconolactate or carbonate, throughout 24 months. Before starting therapy, and after 1 and 2 years of treatment, the bone mineral density (BMD) at the femoral subregions and at the lumbar spine was measured (in grams per square centimeter and as a T score) by dual energy X-ray absorptiometry. A 50-year-old osteopenic ochronotic man refusing the treatment underwent the same checks. The BMD was measured in all patients on the same densitometer by the same operator. The results showed a progressive decrease of the femoral subregion BMD measurements both in the bisphosphonate-treated patients and in the untreated patient. In particular, the percentage differences with respect to the basal values of the total femur BMD measurements ranged from -0.52 to -6.72% in the first year and from -5.29 to -9.05% in the second year. The lumbar spine BMD measurements provided spuriously overestimated results. Moreover, two treated patients and the untreated patient experienced fragility fractures of the femur. The study showed that osteoporosis and fragility fractures are prominent manifestations in the natural history of ochronosis. Matrix microdamage, osteocyte viability, and collagen cross-linking impairment, due to homogentisic acid and to its polymer, might be the processes involved. For this reason, the bisphosphonate therapy was ineffective.

Aged↗
PubMed2000

Bilateral hip arthroplasty for ochronotic arthropathy.

Ochronosis is a musculoskeletal manifestation of alkaptonuria, a rare hereditary metabolic disorder characterised by the absence of the enzyme homogentisic acid oxidase and associated with various systemic abnormalities related to the deposition of homogentisic acid pigment (ochronotic pigment). In this report, we describe a 53-year-old, HLA-B27(+) woman with ochronotic arthropathy. In addition to the typical clinical features of the disorder, she had bilateral hip involvement, which was improved by cementless total hip prosthesis.

Arthroplasty, Replacement, Hip↗
PubMed1987

An ultrastructural and light microscopic study of the synovium in ochronotic arthropathy.

The synovium in two well-documented cases of alkaptonuric ochronosis was studied by transmission electron and light microscopy. A feature of alkaptonuria previously unreported in the English-language literature was the presence of phagocytosis of large collagen fibrils by synovial macrophages in both cases. The origin of these fibrils appeared to have been shards of ochronotic cartilage and areas of metaplastic cartilage. This finding suggests that active remodeling of the synovial tissues occurs in advanced ochronotic arthropathy. Numerous shards of ochronotic cartilage were embedded in the synovium. In addition, small aggregates of large collagen fibrils encrusted with apparent ochronotic pigment were occasionally noted in the interstitium. These aggregates of ochronotic collagen are best described as microshards, and they have not generally been recognized in the literature. What appeared by light microscopy to represent ochronotic pigment deposition in interstitial collagen actually represented embedded microshards of ochronotic cartilage in the interstitium. Slender and elongated microshards were most likely to be confused by light microscopy as ochronotic interstitial collagen.

Adult↗
PubMed1998

Cutaneous deposition diseases. Part II.

Part II of the cutaneous deposition disorders focuses on cutaneous calcification and ossification, alkaptonuria and ochronosis, and gout. These disorders have in common the deposition of materials in the dermis or subcutis and often involve metabolic defects in hormonal and enzymatic regulation. The pathogenesis, clinical findings, and treatment of these diseases are discussed. Both the histologic and ultrastructural findings are reviewed.

Alkaptonuria↗
PubMedDate not supplied

Minocycline pigmentation of heart valves.

Minocycline, a derivative of tetracycline, is a broad spectrum antibiotic used in the treatment of gram-positive and gram-negative infections. Benitz et al. (1) were the first to report black discoloration of the thyroid gland in rats, dogs, and monkeys given minocycline. Since that time, there have been numerous reports in the literature describing minocycline related black pigmentation of the skin, thyroid gland, and other sites. We report an unusual case of minocycline induced pigmentation of the cardiac valves and coronary vessels. The pigment stained with Fontana-Masson and was reduced with bleaching. The exact nature of the pigment is unclear; however, various theories have been advocated. Ochronosis is another cause of black pigmentation of the heart valves; the clinical history should allow distinction between the two.

Aged↗
PubMed2001

Arthroscopic diagnosis and management of ochronotic arthropathy of the knee.

Ochronotic arthropathy is a progressive joint disorder resulting from the deposition of a derivative of homogentisic acid into connective tissues, especially meniscal and articular cartilage. Patients may present with symptoms, physical examination results, and radiographic changes consistent with degenerative joint disease. We present a case in which an operative arthroscopy of the knee was highly suggestive of ochronotic arthropathy. The definitive diagnosis of ochronosis was subsequently confirmed by laboratory and pathologic evaluation.

Arthralgia↗
PubMed2000

Cementless total knee arthroplasty in ochronotic arthropathy: a case report with a 4-year follow-up.

Alkaptonuria is an inherited metabolic disorder characterized by the absence of the enzyme homogentisic acid oxidase, which leads to the accumulation of homogentisic acid, produced during normal metabolism of phenylalanine and tyrosine. Ochronosis, which is the dark pigmentation of connective tissues in patients with long-lasting alkaptonuria, can cause severe cartilage destruction in large joints and the vertebral column. Knee joint involvement, which occurs at relatively early ages, can be quite restrictive. Arthroplasty may be the treatment of choice in these patients because of limited mobility and diffuse involvement of the joint. We report a 48-year-old man who had been treated with cementless total knee arthroplasty. Theoretically, there are no bone ingrowth deficits that might be detrimental for the stabilization of cementless prostheses in ochronotic arthropathy because the bone tissue is not primarily affected by the disease. The 4-year follow-up of cementless total knee arthroplasty was satisfactory without any evidence of loosening.

Alkaptonuria↗
PubMed1988

Rapidly progressive osteoarthrosis of ochronotic origin. A pathologic study.

A case of hip osteoarthrosis associated with ochronosis in a 65-year-old woman is reported. Characteristic features of both conditions were observed macroscopically and on light and electron microscopic examination. In the cartilage the pigment deposits were located on and between thick collagen fibrils. In the synovial membrane there were embedded packets of cartilage shards of which the collagen fibrils and pigment were phagocytosed, as well as calcified bone debris whose disaggregation might have explained the presence of some apatite deposits free of any underlying collagen structure. As also previously observed, the present case of ochronotic hip osteoarthrosis is remarkable for the minor osteophyte formation and for the inclusion of pigmented cartilage shards in the osteomedullar remodeled territory. It also demonstrates a collapse of the femoral head cortex presumably related to the rapid clinical and radiologic evolution. By the well-known origin of its chondropathy and by the pigment labeling of the cartilage, ochronotic arthropathy provides an almost experimental model for analyzing a broader problem, i.e., that of the various components of an osteoarthrotic remodeling.

Aged↗
PubMed1988

A paramagnetic agent causing ochronotic arthropathy.

Magnetic resonance imaging (MRI) identified a paramagnetic substance in the hyaline cartilage of the hips and knees in a patient with ochronosis. Chemical studies characterized the paramagnetic agent as melanin. The free radicals contained in melanin were shown to initiate cytotoxicity. The loss of cartilage in ochronotic arthropathy now can be explained at the electron level using the superoxide theory of oxygen toxicity. Inappropriate metabolism of oxygen also may explain early cartilage degeneration in hemochromatosis, hemosiderosis, and Wilson's disease.

Cartilage, Articular↗
PubMed2006

Pigmentation of articular surfaces of bones as an identification factor: a unique case report.

One of the classic problems of forensic pathology, the identification of a skeletal remains, involves techniques and expertise that span a number of disciplines. This forensic endeavor offers a more challenging and creative exercise because identification with medical and legal certainty often requires thinking beyond routine workups. Identification workups are creative in developing features that are unique as presented by an individual decedent. In this case report, a rare pathologic condition, ochronosis, has helped in the accurate identification of an individual from a systematic skeletal remains examination.

Bone and Bones↗
PubMed2005

Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis.

The deficiency of homogentisic acid oxidase, an enzyme that is mainly found in hepatocytes, is associated with alkaptonuria and ochronosis. We report a patient with clinical and radiologic findings of ochronotic arthropathy in whom alkaptonuria disappeared and the progressive course of the disease stopped after liver transplantation for hepatitis B-related cirrhosis.

Alkaptonuria↗