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At least 19 recordsLinked to original sources
PubMed1991

Transepidermal elimination in exogenous ochronosis. A report of two cases.

Exogenous ochronosis is caused by the long-term application of skin-lightening creams containing hydroquinone. This irreversible disfiguring cosmetic problem assumes epidemic proportions in South African blacks. Mild ochronosis is characterized clinically by coarsening and darkening of the skin; severe ochronosis, by coalescing, caviar-like black papules and atrophy. Histology shows ochronotic collagen fibers with eventual formation of ochronotic colloid milium. A variable cellular infiltrate, which may be granulomatous, is present. We describe two patients with severe exogenous ochronosis who developed superimposed papular lesions. Histology in both cases showed transfollicular elimination of ochronotic fibers. In one patient, gross epidermal hyperplasia, a dense lichenoid infiltrate, and partial destruction of ochronotic fibers accompanied the process of elimination (cell-rich type). In the other, concomitant epidermal hyperplasia and a cellular infiltrate were absent (cell-poor type). Further studies are needed to prove or disprove the existence of such a proposed subdivision. Transepidermal elimination in exogenous ochronosis has been mentioned in a previous report, but to our knowledge this is the first detailed documentation of this phenomenon. The clinical and histopathological spectrum of exogenous ochronosis is thus expanded.

Adult↗
PubMed2005

Alkaptonuric ochronosis: a case report.

Alkaptonuric ochronosis is a rare autosomal recessive metabolic disorder resulting in a deficiency of homogentisic acid oxidase (alkaptonuria). Ultimately, this enzyme deficiency enables homogentisic acid to accumulate, become polymerized, and be systemically deposited within various tissues of the body (ochronosis). As the disease progresses, tissue deposition of polymerized homogentisic acid eventually will lead to the progressive degeneration of all affected body systems. There is no definitive cure for alkaptonuric ochronosis, and treatment is aimed at controlling and ameliorating symptoms. Multiple systemic complications occur as a result of alkaptonuric ochronosis. In the skeletal system, cervical, thoracic and lumbosacral degenerative disk disease develops, as do widespread arthritic changes in peripheral and weight-bearing joints. In the respiratory system, dyspnea can develop owing to limited chest excursion as a result of stiffening of cartilage in the chest wall. In the cardiovascular system, coronary and valvular calcification frequently occurs. In the genitourinary system, calculi formation and urine discoloration are chief manifestations. This case report describes a 63-year-old man with alkaptonuric ochronosis who sustained a stress fracture of the left femoral neck, necessitating surgical repair, which was done without complications. An overview of alkaptonuric ochronosis is presented, and anesthetic implications are discussed.

Alkaptonuria↗
PubMed2005

[Important bilateral corneal astigmatism in a case of ocular ochronosis].

Ochronosis or alkaptonuria is a rare, autosomal recessive metabolic disease where the enzyme homogentisic acid 1,2-dioxygenase is missing. This enzyme is necessary in the oxidation of phenylalanine and tyrosine. As a result of this defect homogentisic acid, which is normally produced during the metabolism of the two amino-acids, cannot be further metabolized and therefore accumulates in the serum. It is massively excreted in the urine and as it is oxidized, the urine turns dark, a feature termed alkaptonuria. Tissue pigmentation called ochronosis is due to the presence and the chemical binding in the connective tissue of oxidized and polymerised products of homogentisic acid. The most important complications of alkaptonuric ochronosis as arthropathy are related to deposition of ochronotic pigment in the affected organs. In ocular ochronosis, the pigment is found in the sclera, conjunctiva, and limbic cornea. Vision is usually not impaired. We report the case of a man aged 73 years, with ochronosis, who developped a marked, late-onset bilateral astigmatism, related to this sclero-limbic ochronotic pigment. The clinical evolution, the result of histological examination and the physiopathology of this astigmatism are discussed.

Aged↗
PubMed1989

The pathology of alkaptonuric ochronosis.

The gross and microscopic pathology of alkaptonuric ochronosis is presented from a study of pathologic specimens from six cases in our files and from a review of the literature. Emphasis is placed on the most clinically relevant organ systems involved by ochronosis: musculoskeletal, cardiovascular, genitourinary, eye, and skin. Recent electron microscopic discoveries from several affected organs, including the synovium, articular cartilage, cardiovascular system, eye, and skin, are included in this report. In addition, the molecular pathology of alkaptonuria is briefly discussed. The pathologic literature regarding alkaptonurin ochronosis is fragmented, as most cases of this rare entity are reported individually or as small series of cases. A comprehensive review of alkaptonuria has not appeared since the clinicopathologic review of the world literature by O'Brien et al in 1963. The purpose of this report is to present an updated and unified pathologic study of alkaptonuric ochronosis.

Alkaptonuria↗
PubMed2002

Localized argyria with pseudo-ochronosis.

BACKGROUND: Localized argyria is uncommon and presents clinically as asymptomatic slate gray macules or blue macules resembling blue nevi. Its histopathologic features are usually similar to those of generalized argyria in which silver granules are found most commonly around the eccrine glands, in the walls of blood vessels, and along elastic fibers. Ochre swollen homogenized collagen bundles resembling ochronosis have not been previously described. OBJECTIVE: The purpose of this study is to report a series of 5 patients with localized argyria with the histologic feature of "pseudo-ochronosis." In one patient, biopsy was performed on 2 distinct lesions. METHODS: All patients underwent skin biopsies for light microscopy and darkfield microscopy. In two patients, the biopsy specimens were analyzed with a mass spectrophotometer; scanning electron microscopy and energy-dispersive x-ray analysis were performed. In one patient, the biopsy specimen was decolorized with 1% potassium ferricyanide in 20% sodium thiosulfate. RESULTS: All 5 patients presented with the typical clinical and histologic features of localized argyria. Ochre swollen and homogenized collagen bundles were seen in all cases. In addition, light microscopy in 4 cases revealed an ellipsoid black globule within a zone of collagen degeneration. CONCLUSION: The histologic features of localized argyria include swollen and homogenized collagen bundles resembling ochronosis, "pseudo-ochronosis," which may be more common than previously recognized.

Aged↗
PubMed1989

Exogenous ochronosis: an epidemiological study.

A survey was conducted to investigate the relationship between exogenous ochronosis and the use of skin lightening preparations amongst black individuals attending general outpatient departments in two South African hospitals. In the sample, 15% of males and 42% of females were found to have exogenous ochronosis. The prevalence amongst users of skin lighteners was 69%. The main demographic associations with ochronosis were an inverse relationship to education, and predominance of the female sex. Clinical and behavioural aspects were also recorded. Even products limited to 2% hydroquinone or less, and combined with a sunscreen, were found to cause ochronosis.

Adolescent↗
PubMed2004

Treatment of exogenous ochronosis with a Q-switched alexandrite (755 nm) laser.

BACKGROUND: Exogenous ochronosis is a cutaneous disorder characterized by blue-black or slate-gray hyperpigmentation resulting from the prolonged use of certain topical agents, most commonly hydroquinones. It is notoriously difficult to treat. OBJECTIVE: To report the effectiveness of a quality-switched (QS) 755-nm alexandrite laser in treating hydroquinone-induced exogenous ochronosis. METHODS: Hydroquinone-induced exogenous ochronosis in two patients was treated with a QS alexandrite laser. The first patient received six treatments (average fluence=7.8 J/cm(2)) at 2-month intervals. The second patient received four treatments (average fluence=6.9 J/cm(2)) at 4-month intervals. Biopsies of lesional skin were obtained before and after laser treatment for histologic evaluation. RESULTS: Significant lightening of the pigmented skin areas was achieved in both patients without scarring or textural changes. Decreased dermal pigmentation was observed on histologic examination of treated skin specimens. CONCLUSION: The QS alexandrite laser can effectively treat exogenous ochronosis without untoward side effects.

Beryllium↗
PubMed1990

Actinic granuloma-like change in exogenous ochronosis: case report.

Exogenous ochronosis is caused by the longterm application of skin-lightening creams containing hydroquinone. This irreversible disfiguring cosmetic problem assumes epidemic proportions in South African blacks. Mild ochronosis is characterized clinically by coarsening and darkening of the skin and severe ochronosis by coalescing, caviar-like black papules and atrophy. Histology shows ochronotic collagen fibres with eventual formation of ochronotic colloid milium. A variable cellular infiltrate, which may be granulomatous, is present. We describe a 39-year-old black woman with severe exogenous ochronosis who developed superimposed annular lesions with granulomatous histology bearing great resemblance to lesions of actinic granuloma.

Actins↗
PubMed2004

Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review.

Alkaptonuria is a rare autosomal recessive disorder of metabolism caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large joints. Less common manifestations include cardiovascular abnormalities, renal, urethral and prostate calculi. Bone fractures are unusual in ochronosis. In this report, we describe a woman, 69 years of age, with a history of dark urine since childhood and progressive pigmentation of the skin, sclera, and auricular cartilages. She had severe arthropathy requiring total joint replacement in both of her knees and right hip. She also had severe aortic stenosis requiring valve replacement, and asymptomatic nephrolithiasis. She presented with a low trauma fracture of the distal femur despite two years of alendroate therapy. We review the etiology, pathogenesis, clinical presentation, diagnosis and treatment of alkaptonuric ochronosis. Early detection is important for prevention and treatment of multiple systems. Nitisinone, a potent inhibitor of 4-hydroxyphenylpyruvate dioxygenase, dramatically reduces production and urinary excretion of homogentisic acid; however, the long-term efficacy and side effects of such therapy are unknown. Identifying the gene for alkaptonuria offers the potential for a new therapeutic approach (replacement therapy with a recombinant enzyme) in the treatment of alkaptonuric ochronosis.

Aged↗
PubMed2001

Dura mater involvement in ochronosis (alkaptonuria).

Clinical manifestations of alkaptonuria have been well described and are most commonly characterized by ochronosis or pigmentation of connective tissue. Sites most commonly involved in ochronosis include joints, heart, skin, and kidney. We describe a 66-year-old woman with a history of alkaptonuria who had widespread ochronosis. The dura mater showed extensive pigment deposition, which was evident both grossly and microscopically at autopsy. To our knowledge, description of dura mater involvement by ochronosis has not been previously reported in the literature.

Aged↗
PubMed1987

Cardiovascular ochronosis.

A 64-year-old man with alkaptonuric ochronosis required aortic valve replacement for severe aortic stenosis and single-vessel aortocoronary artery bypass grafting for a subtotally occluded obtuse marginal branch of the circumflex coronary artery. Operative findings included ochronosis of a partly calcified aortic valve and the aortic intima. The aortic valve and a punch biopsy specimen of the ascending aorta were removed at surgery and were studied with transmission electron microscopy and light microscopy. The ultrastructural studies of the aortic valve revealed intracellular and extracellular deposits of ochronotic pigment. A portion of the extracellular ochronotic pigment represented degenerated cells. Large deposits of extracellular ochronotic pigment were associated with areas of valvular calcification. Electron microscopic study of the aorta disclosed ochronotic pigment in macrophages and smooth-muscle cells. Aggregates of extracellular ochronotic pigment in the intima and media appeared to be in locations of necrotic cells. Light microscopy also showed intracellular and extracellular deposits of ochronotic pigment. Our study suggests that extensive extracellular deposits of ochronotic pigment in the aortic valve may serve as a stimulus for dystrophic calcification. This may play a role in the development of aortic valve calcification and aortic stenosis associated with alkaptonuric ochronosis. To our knowledge, this is the first ultrastructural study of the aortic valve and aorta in alkaptonuric ochronosis.

Alkaptonuria↗
PubMedDate not supplied

Pseudogout in ochronosis. Report of a case.

Calcium pyrophosphate dihydrate crystals were identified in synovial fluid white blood cells during an episode of acute arthritis in a patient with ochronosis and chondrocalcinosis. Review of the histories and radiographs of 5 other patients with ochronosis demonstrated two additional instances of chondrocalcinosis. Both of these patients had episodes of arthritis consistent with pseudogout. This suggests that pseudogout, which has been found in increased incidence in some metabolic diseases, may also be more common in ochronosis.

Arthroplasty↗
PubMed1979

Idiopathic pigmentation of the hands. Professional exogenous ochronosis? A new entity?

A case of ochronosis-like pigmentation of the hands is described. The following criteria were fulfilled: (1) presence of blue to black spots confined to the hands: (2) pitch-black macroscopic appearance of the biopsy specimen; (3) abundance of granular material in the whole connective structures on microscopic examination of an unstained specimen just mounted on a slide; (4) numerous pigmented granules in the elastic and collagen fibers: (5) no family history, abnormal coloration of the urine, taking of drugs, or rheumatism; (6) onset in a manual worker exposed to benzenic substances. This seems to be a new entity, probably a variant of exogenous ochronosis produced by professional contacts with some agents and perhaps a professional benzenic ochronosis.

Adult↗
PubMed1998

Clinical, radiographic and echocardiographic findings in a patient with ochronosis.

Hereditary alkaptonuric ochronosis is an autosomal recessive metabolic disorder that affects approximately one in one million individuals. The most common clinical features are homogentisic aciduria, pigmentation of cartilages and other connective tissues, ochronotic arthritis and cardiovascular ochronosis. We report a case of ochronosis which has all these clinical features mentioned above. We detected homogentisic acid in the patient's plasma and urine sample by using a high-performance liquid-chromatographic method. The patient was HLA-B27 negative. The case was evaluated with both conventional radiography and helical CT. The main characteristic manifestations of ochronotic arthritis were observed in conventional radiographs. We also obtained Ray-Sum and maximum intensity projections (MIP) images of ankylosed ochronotic spine of our patient. Such images of an ochronotic patient were not encountered in the literature. Echocardiographic examination revealed thickening of the right coronary cusp which may be related to ochronotic calcific deposition, along with coaptation deficiency and slight aortic regurgitation (grade I-II). No other abnormalities concerning the other valves and ventricular function were detected.

Back Pain↗
PubMed2004

New developments in ochronosis: review of the literature.

Ochronosis commonly affects all connective tissue. Recognition of changes secondary to the deposition of ochronotic pigments has increased with advances in diagnostic technology, allowing both improved imaging and early biochemical and genetics-based diagnosis of alkaptonuria, the cause of ochronosis. Successful symptomatic treatment of ochronotic arthropathy with joint replacement has been documented, and a new pharmacotherapeutic agent, nitisinone, is currently under investigation for both prevention and treatment of ochronosis. This review of the literature highlights recently recognized complications, new diagnostic techniques, and treatment options.

Alkaptonuria↗
PubMed1990

Alkaptonuric ochronosis and multiple intracranial aneurysms.

Alkaptonuric ochronosis is a heritable disorder of tyrosine metabolism, with various systemic abnormalities related to pigment deposition and degeneration of collagen and other tissues, including the heart and aorta, though no cerebrovascular abnormalities have been reported. The authors report a patient with alkaptonuric ochronosis and multiple intracranial aneurysms presenting with subarachnoid hemorrhage. The ruptured aneurysm was surgically treated, with a satisfactory outcome. In view of the well-known association of other connective tissue disorders with intracranial aneurysms, a potentially causal relationship is suggested between cerebral aneurysms and alkaptonuric ochronosis.

Humans↗
PubMed1992

Alkaptonuria and ochronosis: case report and review.

Alkaptonuria is a rare genetic disorder in which the enzyme homogentisic acid oxidase is deficient, resulting in the accumulation of homogentisic acid in various bodily tissues. This is a multisystem disorder with a characteristic blue-black discoloration of the skin and cartilage, which is termed ochronosis. Herein we report a profound case of ochronosis secondary to alkaptonuria. Furthermore, we review the clinical manifestations of alkaptonuria and discuss the spectrum of ochronosis, both endogenous and exogenous.

Aged↗
PubMed1992

Aortic valve replacement in cardiac ochronosis.

Two patients with generalized ochronosis developed cardiovascular symptoms related to cardiac ochronosis with aortic valvular stenosis. One patient with a transvalvular pressure gradient of 150 mm Hg underwent emergency aortic valve replacement. The other patient with a transvalvular pressure gradient of 96 mm Hg underwent successful elective aortic valve replacement. Cardiac ochronosis is a rare disease that might be encountered, with the typical signs, during an elective, planned cardiac operation. The most frequent presenting feature of this disease seems to be aortic valvular stenosis.

Aged↗