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PubMed2003

Vaginal hyperpigmentation due to ochronosis.

BACKGROUND: Ochronosis is a manifestation of alkaptonuria, a rare metabolic disorder. It results in the accumulation of pigment in connective tissues. After several years, ochronosis may produce a distinctive form of degenerative arthritis. CASE: Vaginal ochronosis was diagnosed in an asymptomatic elderly woman with vaginal hyperpigmentation and severe degenerative arthritis. CONCLUSION: Vaginal hyperpigmentation is a rare clinical finding that necessitates biopsy.

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PubMed1986

Exogenous ochronosis resulting from quinine injections.

An 86-year-old woman presented with bluish black macules on each buttock. Skin biopsy revealed ochronotic pigment in the dermis. On the basis of negative results of a urine test for alkaptonuria and a history of having received quinine injections for malaria 70 years ago, the patient was diagnosed as having localized exogenous ochronosis resulting from quinine injections. Exogenous ochronosis has been reported following the topical use of phenol in leg ulcers, the topical use of hydroquinone bleaching creams in black persons, and the oral administration of antimalarials for malaria and connective tissue diseases, but we could find no reports in the literature of exogenous ochronosis following intramuscular injections of antimalarials.

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PubMed1988

Exogenous ochronosis in the United States.

Two middle-aged black women reported hyperpigmentation of the face after using bleaching creams containing hydroquinone. Both noted initial lightening of facial pigmentation followed by progressive darkening of the areas to which the cream was applied. After biopsy, they were found to have exogenous ochronosis. These are the fifth and sixth cases of exogenous ochronosis reported in the United States. In this article we review the literature and discuss the possible pathogenesis of exogenous ochronosis.

Adult↗

PubMed1995

The clinical manifestations of ochronosis: a review.

Ochronosis is a rare disease caused by an inherited lack of homogentisic acid oxidase. Alkaptonuria is the presence of homogentisic acid in urine. Ochronosis is characterized by the deposition of a dark pigment in tissues rich in collagen. A wide spectrum of clinical manifestations is described. The most important signs are ochronotic arthropathy, ocular and cutaneous pigmentation, genitourinary tract obstruction by ochronotic calculi and cardiovascular ochronosis, especially calcification and stenosis of the aortic valve. The constellation of these clinical signs should suggest the diagnosis which is confirmed by the detection of homogentisic acid in urine. There is no cure for the disease and treatment is based on symptomatic measures.

Cardiovascular Diseases↗

PubMed2005

Exogenous ochronosis and striae atrophicae following the use of bleaching creams.

Exogenous ochronosis is a paradoxical hyper-pigmentation of the skin caused by the long-term use of hydroquinone-containing bleaching creams. Ochronosis is an uncommon condition characterized by yellow-brown pigmented deposits in the dermis. We report two cases of exogenous ochronosis in two female patients of the sub-Saharan African population. The lesions were characterized by an asymptomatic hyper-pigmentation of the face with gradually progressive blue-black macular patches, and in case no. 2, in addition to dyschromic lesions, striae atrophicae were present. This phenomenon is the outcome of the use of skin care products containing high concentrations of hydroquinone- and glucocorticoid-based products, and, in addition, certain modalities in the use of bleaching products are likely to facilitate complications.

Atrophy↗

PubMed2007

Aortic stenosis in cardiovascular ochronosis.

Alkaptonuria (endogenous ochronosis) is a rare metabolic disorder caused by a deficiency of homogentisic acid oxidase, an enzyme responsible for the metabolic degradation of tyrosine. Patients with alkaptonuria commonly present with joint pain owing to degenerative arthritis. Other affected patients may present with pigmentation of the ear cartilage and sclera. This article reports a case of aortic stenosis associated with ochronosis in a 48-year-old man who presented with severe cardiac failure. He had no previous diagnosis of alkaptonuria, which was confirmed by mass spectrometry analysis of urine. The pathogenesis of cardiovascular ochronosis is unclear, but is probably related to the extensive extracellular deposits of ochronotic pigment in the cardiac tissue.

Aortic Valve Stenosis↗

PubMed1990

Cardiovascular ochronosis: a case report and review of the medical literature.

Ochronosis is a rare disorder of tyrosine metabolism due to a deficiency of the enzyme homogentisic acid oxidase. The most common clinical manifestations include alkaptonuria, spondyloarthropathy, large joint arthritides and pigmentation of cartilage. Cardiac involvement may occur due to the deposition of polymerized homogentisic acid in the aortic, mitral and pulmonic valves. Usually, this leads to increasing rigidity and calcification. The only functionally significant valve lesion reported appears to be aortic stenosis. A possible link between ochronosis and coronary artery disease has been postulated. Further, a link between peripheral vascular disease and ochronosis may be present. We describe a case of ochronotic cardiovascular disease and review the literature on the subject.

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PubMed2001

Exogenous ochronosis. An update on clinical features, causative agents and treatment options.

Exogenous ochronosis is clinically and histologically similar to its endogenous counterpart; however, it exhibits no systemic effects and is not an inherited disorder. It is characterized by an asymptomatic hyperpigmentation of the face, sides and back of the neck, back, and extensor surfaces of the extremities. The associated ochronotic discoloration most commonly results from use of products containing hydroquinone. It also occurs following use of antimalarials and products containing resorcinol, phenol, mercury or picric acid. The etiology of hydroquinone-induced hyperpigmentation in exogenous ochronosis remains speculative. The majority of patients with this condition are Black, but it has been reported to occur in Hispanics and Caucasians. Exogenous ochronosis is prevalent among South African Blacks, but is believed relatively uncommon within the US. The reasons for this phenomenon are not clear, but it could be a result of the use of skin care products containing resorcinol in combination with hydroquinone or the use of hydroquinone in a hydroalcoholic lotion. Treatment of this condition is difficult. The offending agent must be avoided, but improvement occurs only slowly. A number of topical agents have been studied as have dermabrasion and the use of lasers. Controlled studies in larger numbers of patients are require to determine the true efficacy of newer treatments.

Adrenal Cortex Hormones↗

PubMed2002

Aortic valve stenosis in alkaptonuric ochronosis.

Alkaptonuria is a rare genetic disorder of tyrosine metabolism in which a bluish pigment accumulates in the connective tissues throughout the body, and causes degenerative changes. The most common clinical manifestation of ochronosis is arthropathy. Heart valves may also be affected, though cardiac involvement is rare. The present patient has cardiac ochronosis, and has several family members diagnosed with ochronosis and aortic valve stenosis.

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PubMed2002

[Ochronosis: a case report with multisystemic affectation, including pericardium].

Alkaptonuric ochronosis is rare disorder of tyrosin catabolism with an autosomal recessive trait. Alkaptonuric patients are deficient for homogentisate 1,2-dioxygenase. This enzymatic deficiency leads to the elimination of large amounts of homogentistic acid in the urine (Alkaptonuria) with accumulation of homogentistic acid oxidized pigment in the connective tissue (Ochronosis). The most common clinical features are dark brown discoloration of urine on exposure to air; ocular and cutaneous pigmentation; calcification of the intervertebral disc and cardiovascular ochronosis, especially calcification and stenosis of the aortic valve. The diagnosis is confirmed by detection of homogentistic acid in urine. We report a case of a 87 year old female which has all these clinical features mentioned above and pericardiac calcification, which had not been previously reported, to our knowledge.

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PubMed2005

Radiographic and MRI findings in ochronosis.

PURPOSE: Ochronotic arthropathy is the articular manifestation of alkaptonuria, a rare hereditary metabolic disease that leads to the deposition of homogentisic acid particularly in the joints where it causes articular degeneration and inflammation. We studied the radiological patterns of the disorder using both traditional X-rays both MRI and comparing the results obtained with the two techniques. MATERIALS AND METHODS: The study included five patients (4 males, 1 female, mean age 51 years); we studied the most frequently affected sites, the knee, the shoulder and the spine. As regards the conventional study we used a radiographic score which considered the state of the articular space and the presence of calcifications. MRI of the peripheral joints was performed on the most symptomatic site or, if asymptomatic, on the most severely affected site as established by radiography; in all cases T1- and T2-weighted sequences in the axial, sagittal and coronal planes were acquired. RESULTS: Both the X-ray and MRI study revealed the typical alterations of ochronosis in the cases with a known diagnosis: articular space narrowing up to osseous ankylosis, calcifications, osteophytosis, reactive sclerosis of the articular surfaces; MRI was however more accurate in identifying the alterations and revealing lesions not visible at conventional radiology, such as ligament lesions. In the case of newly diagnosed ochronotic arthropathy MRI proved valuable for its ability to detect alterations that are poorly appreciable at conventional radiology. CONCLUSIONS: Modern diagnostic imaging, above all MRI, allowed us to identify the peculiar characteristic features of ochronosis and is fundamental both for the diagnosis and for differentiating ochronosis from other articular disorders.

Adult↗

PubMed1998

[Concomitant manifestation of ochronosis and chronic polyarthritis in a patient].

Ochronosis is rare disorder of tyrosin catabolism with an autosomal, recessive trait. Clinical signs predominantly affect the locomotor system. Inflammatory episodes in large joints can mimick Rheumatoid Arthritis (RA). Brownish discoloration of sclerae and cartilage is characteristic, diagnosis is confirmed by typical changes of spinal X-rays and the findings of homogentisic acid in urine samples. We describe a case of a 53 year old female patient with ochronosis and a second diagnosis of RA.

Arthritis, Rheumatoid↗

PubMed2002

Ochronosis: a case of severe ochronotic arthropathy.

Ochronosis involves primarily the large cartilaginous joint surfaces, ribs, intervertebral discs, ear cartilage etc. We report on a 53-year-old woman with typical alkaptonuric ochronosis with dark urine, blue-black pigmentation of the auriculae and hands, focal brown hyperpigmentation of the sclera, spondylarthropathy and severe shoulder joint involvement.

Alkaptonuria↗

PubMed2005

Radiologic features of lumbar spine in ochronosis in late stages.

Ochronosis is a rare hereditary disorder of tyrosine metabolism. Severe degenerative arthritis and spondylosis occur in the later stages of this disease. Radiologic examinations may reveal changes considered almost pathognomonic for ochronosis. We present the radiologic features of the lumbar spine in two ochronotic patients who were diagnosed after radiologic examinations in the late stages of the disease.

Disease Progression↗

PubMed2005

[Endogenous ochronosis: a case description].

Endogenous ochronosis or alkaptonuria is an autosomal recessive disease caused by a deficiency of the enzyme homogentisic acid oxidase. Affected individuals excrete high levels of homogentisic acid in the urine, which darkens when it is alkalinized or oxidized. Deposits of blackish-brown pigment also occur in connective tissue; this causes, usually starting around the age of 40, the typical external manifestations of this disease, along with disorders in other organs. We present a clinical case of endogenous ochronosis, a very infrequent disease in our milieu. We will discuss the most noteworthy features of the case.

Humans↗

PubMed2000

Exogenous ochronosis.

Ochronosis is an uncommon condition characterized by yellow-brown pigment deposits in the dermis. It occurs in exogenous and endogenous forms. We report a case of exogenous ochronosis in a Hispanic woman and discuss the different forms of this condition. We treated the lesions with Q-switched ruby laser.

Face↗

PubMedDate not supplied

Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.

In alkaptonuria, homogentisate 1,2-dioxygenase deficiency causes tissue accumulation of homogentisic acid (HGA), followed by signs and symptoms of ochronosis. These include massive urinary excretion of HGA, arthritis and joint destruction, pigmentation of cartilage and connective tissue, and cardiac valve deterioration. We describe a 46-year-old man with alkaptonuria and diabetic renal failure whose plasma HGA concentration was twice that of any other alkaptonuria patient, and whose ochronosis progressed much more rapidly than that of his two alkaptonuric siblings. After renal transplantation, the plasma HGA normalized, and the daily urinary excretion of HGA decreased by 2-3g. This case illustrates the critical role of renal tubular secretion in eliminating HGA from the body, and suggests that renal transplantation in a uremic patient not only restores HGA excretion, but may also provide homogentisate 1,2-dioxygenase activity for the metabolism of HGA.

Adult↗

PubMed2004

Alkaptonuria, ochronosis, and ochronotic arthropathy.

OBJECTIVES: To describe the clinical presentation and course of a relatively large group of Italian adult patients screened for mutation of the homogentisate dioxygenase gene causing alkaptonuria (AKU) and ochronosis, and to review typical and atypical facets of this condition. METHODS: We reviewed the medical records of 9 patients affected by ochronotic arthropathy who were observed in our institutions between 1979 and 2001. All patients were diagnosed as having AKU through a rapid urine test with alkali. Mutation screening was performed by single-strand conformation analysis of all homogentisate dioxygenase exons, followed by sequencing of altered conformers. RESULTS: Our 9 cases had similar clinical features and they reflected those described in the literature: a progressive degenerative arthropathy mainly affecting axial and weight-bearing joints associated with extraarticular manifestation. Musculoskeletal symptoms began in most of our patients around the age of 30 years with back pain and stiffness: involvement of the large peripheral joints usually occurred several years after spinal changes. Ochronotic peripheral arthropathy generally was degenerative, but joint inflammation was observed in some cases; this could be attributed to an inflammatory reaction of the ochronotic shard in the synovial membrane. CONCLUSIONS: Ochronosis is a model of arthropathy with known etiologic factors. Over time, AKU, the genetically determined metabolic defect, leads to the accumulation of pigment and the development of this crippling condition. Most of the clinical findings may be explained by inhibition of collagen crosslinks, but some require additional interpretation. For example, inflammatory features of the ochronotic joint only occur in a minority of cases, and may be attributable to ochronotic shards. Further studies are needed to establish the genotype-phenotype correlation to identify mutations that are predictive of severe disease. For this purpose, the Italian Study Group on Alkaptonuria (www.dfc.unifi.it/aku) is enrolling affected patients in an on-line database to characterize the molecular defects and their relationship to clinical data.

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