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PubMedDate not supplied

Homogentisic acid and structurally related compounds as intermediates in plasma soluble melanin formation and in tissue toxicities.

Homogentisic acid (HGA) spontaneously starts to undergo oxidation and polymerization soon after the beginning of incubation in human blood or plasma at 37 degrees C, and forms plasma soluble melanins (PSM). Haemolysis accompanies this process in blood. The addition of equimolar quantities of antioxidants delays this oxidation significantly (isoascorbic acid by 2:30-4:00 h; glutathione by 3:20-4:05 h; D-penicillamine by 5:00-5:45 h). HGA is a phenylalanine and tyrosine metabolite, related structurally to the catecholamines and other precursors of melanins. HGA is normally metabolized by the enzyme homogentisic acid oxidase. When this enzyme is genetically missing, part of HGA is excreted in the urine, another part polymerizes darkens many tissues (ochronosis), and produces widespread degenerative changes in cartilage and other connective tissues, joints, blood vessels, heart valves, kidneys and in other tissues. Collectively this disorder is known as alcaptonuria, for which no satisfactory treatment is known. The causes of both alcaptonuric arthritis and rheumatoid arthritis are thought to involve increased oxidative stress. Inflammation of joints and connective tissue damage are involved in both diseases. Oxygen radicals are suspected to cause inflammation and cellular damage. Hydroxyl radicals degrade hyaluronic acid (the viscous synovial fluid of joints). High levels of products of free radical reactions, with fluorescence excitation (ex) and emission (em) maxima in the wavelength ranges of those of PSM (ex 320-400 and em 400-470) were reported in the blood sera and synovial fluids of patients with rheumatoid arthritis.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1999

[A child with dark discoloration of urine].

In a 3-year-old boy alkaptonuria was diagnosed. From early age on gradual dark discoloration of his urine had been noticed in the diapers, but routine urinalysis had not revealed abnormalities. Alkaptonuria is a rare metabolic disease in which homogentisic acid cannot be metabolised, due to a lack of the enzyme homogentisic acid oxidase. The disease often manifests itself in childhood by darkening of urine on standing. The excretion of homogentisic acid in urine in these patients is increased. The disease leads to serious consequences, such as ochronosis of cartilage and connective tissues with arthritis. It is expected that treatment with ascorbic acid and a dietary restriction of protein (1 g/kg/day) can decrease the late and serious consequences by diminishing the serum concentration of the metabolite benzoquinone acetic acid.

Alkaptonuria↗
PubMed2000

Diffuse intervertebral disk calcification in a patient with rheumatoid arthritis.

A patient with seronegative rheumatoid arthritis (RA) who presented with intervertebral disk calcification (IDC) of several thoracic and lumbar intervertebral disks in herein described. There was no evidence of any other coexisting diseases such as ochronosis and hemochromatosis, but a remarkable degree of polyclonal hypergammaglobulinemia was observed as a notable finding. Although the appearance of IDC on T1-weighted images on magnetic resonance is controversial, no increased signal intensity was observed in our patient. To the best of our knowledge, this is the first report of IDC in RA.

Adult↗
PubMedDate not supplied

[Depigmentation for cosmetic purposes: prevalence and side-effects in a female population in Senegal].

BACKGROUND: Use of depigmenting agents by black women for cosmetic purposes is a long-standing practice. Most depigmenting agents contain topical steroids and hydroquinone. The purpose of this study was to clarify prevalence data on use of depigmenting agents in a female population in Senegal and to report the incidence and main features of adverse skin reactions in addition to possible associations with diabetes, hypertension and renal insufficiency. PATIENTS AND METHODS: A cross-sectional study was made in a representative sample of 147 hospitalized women aged from 15 to 60 years. The incidence of adverse skin reactions, diabetes, hypertension and serum creatinine in 41 women admitting use of depigmenting agents was compared to those found in 85 women who maintained they had never used depigmenting agents. Two patients who refused to participate in the study and 19 others who did use depigmenting products and had stopped their use for at least 3 months were excluded from the analysis. RESULTS: The prevalence of use of depigmenting agents was 27.9% (47/147). Adverse skin reactions were significantly more frequent among these patients. Effects observed were similar to those reported for prolonged use of topical steroids but also included periorbitary dyschromia, exogenous ochronosis, infectious dermatosis, and, in particular, extended dermatophytosis and necrotizing cellulitis, contact eczema, and certain hyperpigmentation when depigmenting agents were discontinued. Presence of relative hyperpigmentation of the dorsal phalanges identified use of depigmenting agents with a 100% specificity. Prevalence of diabetes and hypertension was significantly higher among the group of women using depigmenting agents (46.3% and 8.2%, versus 34.1% and 8.2% respectively). There was no difference for renal insufficiency. The risk increased independently of age depending on whether duration of use was less than 10 years or not with a relative risk that rose from 3.63 (1.2-10.47) to 6.47 (3.41-12.32) for diabetes and from 1.34 (0.45-3.96) to 2.65 (1.27-5.51) for hypertension, clearly suggesting a possible dose effect. DISCUSSION: The prevalence of use of depigmenting agents in this first published hospital series confirms the widespread nature of this phenomenon in Senegal. While certain patent skin signs are similar to those described in the literature, and excluding specific features related to the hospital setting, this is the first report of a dose-effect between use of depigmentation agents and diabetes and hypertension, probably via the effect of topical steroids.

Administration, Topical↗
PubMedDate not supplied

An epidemiological survey of the use of cosmetic skin lightening cosmetics among traders in Lagos, Nigeria.

The use of skin lightening creams has become a socially acceptable phenomenon widely practised by both men and women in Lagos, Nigeria. Four hundred and fifty traders were selected to ascertain the extent of this practice and what socio-cultural and economic factors determine the use of these cosmetics. Prevalence of use of skin lightening cosmetics was 77.3% comprising ninety-six males (27.6%) and two hundred and fifty two females (72.4%). The trend cuts across all socioeconomic strata, age, sex and marital status. Hydroquinolone based products were the most commonly used products although cortico-steroids and mercury-based products were also widely used. Of eleven dermatological side effects that were reported, exogenous ochronosis was the commonest. Recommendations on how to correct this ill in the society have been proffered.

Adolescent↗
PubMed2004

Aortic valve regurgitation in alkaptonuria.

Aortic valve lesions associated with alkaptonuria tend mostly to be due to aortic valve stenosis, while aortic valve regurgitation is only rarely observed. Herein, a case is reported of severe aortic valve regurgitation and a fibrous strand in a patient with alkaptonuria. A 65-year-old male, with a history of inferior myocardial infarction, presented with symptoms of congestive heart failure. Alkaptonuria was diagnosed based on urine coloration, skin pigmentation and ochronotic arthropathy in the vertebrae and hip. Grade IV aortic valve regurgitation with mild aortic valve stenosis and occlusive disease in the right coronary artery indicated a need for aortic valve replacement and coronary artery bypass grafting. Sclerotic change in the cusps, and shrinkage of the non-coronary cusp, impeded normal coaptation of the aortic valve, and the left-coronary cusp also had a fibrous strand suspending the free margin of the cusp from the aortic wall just above the commissure. The sclerotic change in the cusps, and shrinkage of the non-coronary cusp, appeared to be the causative lesion of aortic valve regurgitation, implying that cardiovascular ochronosis may cause aortic valve regurgitation.

Aged↗
PubMed1991

Alcaptonuria and ochronotic arthritis.

The rare hereditary metabolic disorder alcaptonuria is characterized by the inability to metabolize homogentisic acid, an intermediary compound in the catabolism of the aromatic amino acids phenylalanine and tyrosine. The essentially complete deficiency of homogentisic acid oxidase causes a striking accumulation of homogentisic acid and a derived melanin-like pigment in the connective tissues; the latter is termed ochronosis. Urinary homogentisic acid is oxidized rapidly and becomes a brown or black pigment if alkali is added. Older alcaptonurics have intensely pigmented (ochronotic) connective tissues, primarily the cartilaginous joint surfaces, ribs, intervertebral disks, ear cartilage, etc. They also have an unusual type of arthritis affecting the large weight-bearing joints, i.e. hips, knees and spine, but not the small joints of the hands and feet, as in rheumatoid arthritis. A mechanistic explanation for ochronotic arthritis has not been worked out, but it is clear that accumulation of homogentisic acid in the connective tissues directly or indirectly leads to the arthritic changes. A detailed analysis of the events leading to alcaptonuric arthritis should be worthwhile since it is a model form of arthritis secondary to a well-defined metabolic disorder that must persist for many years before the arthritic complications appear. Possibly other, more common types of arthritis, develop secondarily to metabolic disturbances that involve chemical mediators less obvious, or less easily detected, than homogentisic acid.

Alkaptonuria↗
PubMed1989

Alkaptonuria.

A case of alkaptonuria with its various sequelae in the form of ochronosis, ochronotic arthropathy, spondylitis and prostatic calculi is reported. The case is of interest as it presented with hepatocellular failure and hepatitis B surface antigenaemia.

Alkaptonuria↗
PubMed1977

HLA antigens and alkaptonuria.

Thirty members of Family C, which included cases of alkaptonuria and ochronosis, were investigated by means of HLA typing and homogentistic acid determination. The antigen HLA B27 was found in one of the two members of the first generation, in all eight members of the second generation, and in 15 of the 21 members of the third generation. Eight of 10 subjects suffering from alkaptonuria, with or without ochronotic arthropathy or spondylosis, had B27. The gene for B27 is not the gene determining homogentisic acid oxydase synthesis but this study suggests that it may be associated or linked to it.

Alkaptonuria↗
PubMed1986

Etiology of osteoarthritis of the hip.

More than 90% of patients with so-called primary or idiopathic osteoarthritis of the hips in whom sufficient data were available to make an assessment of the normality of the hip joint at the cessation of growth clearly showed demonstrable abnormalities in the hip joint. The most common are mild acetabular dysplasia and/or pistol grip deformity. This latter deformity is associated with mild slipped capital femoral epiphysis (recognized or unrecognized at the time), Legg-Perthes' disease (recognized or unrecognized at the time), multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia, and/or the presence of an intraacetabular labrum, as well as, in certain instances, acetabular dysplasia. When these abnormalities are taken in conjunction with the detection of other metabolic abnormalities that can lead to osteoarthritis of the hip and which may not be recognized readily, such as hemochromatosis, ochronosis, calcium pyrophosphate disease, and monarticular rheumatoid arthritis, it seems clear that either osteoarthritis of the hip does not exist at all as a primary disease entity or, if it does, is extraordinarily rare.

Acetabulum↗
PubMed1986

The symphysis pubis. Anatomic and pathologic considerations.

The symphysis pubis is a nonsynovial amphiarthrodial joint that is situated at the confluence of the two pubic bones. A thick intrapubic fibrocartilaginous disc is sandwiched between thin layers of hyaline cartilage. The inferior pubic ligament provides most of the joint's stability. Anatomic sections demonstrate a symphysis by the end of the second month of gestation. Thick cartilaginous end-plates are present at birth but become thin by the time of skeletal maturity. Congenital diseases resulting in failure of symphysis formation include exstrophy of the bladder and cleidocranial dysostosis. Both pyogenic and tuberculous infectious diseases involve the symphysis. Metabolic disease, such as renal osteodystrophy, produces widening, while ochronosis results in calcific deposits in the symphysis. Inflammatory disease, such as ankylosing spondylitis, results in bony fusion of the symphysis. Osteitis pubis, the most common inflammatory disease, is treated with anti-inflammatory medication and rest. Degenerative joint disease of the symphysis, which can cause groin pain, results from instability or from abnormal pelvic mechanics. As is the case with most joints, the symphysis serves as a barrier to tumor invasion. The patterns of trauma include diastasis, straddle fracture, intraarticular fracture and overlapping dislocation, and combinations of injuries.

Adolescent↗
PubMed1980

Methacycline hyperpigmentation: a five-year follow-up.

A five-year follow-up is presented of a unique material of patients who acquired a greyish black hyperpigmentation during long-term methacycline therapy for chronic bronchitis. The melanosis disappeared in cases in which tetracycline therapy was discontinued during the observation period but not in those in which doxycycline had been substituted. In two autopsy cases pigment deposits were also found in cartilage and atherosclerotic lesions. Overall clinical and microscopic findings suggest a similarity to the pigmentation occurring in iatrogenic ochronosis.

Bronchitis↗
PubMed1981

[Metabolic disorders and corneal changes (author's transl)].

The following inborn errors of metabolism may show corneal changes: A. Inborn errors of metabolism affecting the corneal epithelium: (1) familial dysautonomia, (2) tyrosinaemia type II, (3) Fabry's glycolipidosis. B. Inborn errors of metabolism affecting the corneal stroma: I. Localized amyloidosis (lattice dystrophy of the cornea), II. Defects in carbohydrate metabolism: (1) localized mucopolysaccharidosis (macular dystrophy of the cornea), (2) systemic mucopolysaccharides, (3) glycogen storage disease. III. Defects in lipid metabolism: (1) localized from (Schnyder's crystalline dystrophy), (2) systemic forms (hyperlipoproteinaemia, hypolipoproteinaemia, Lecithin-cholesterol acyl transferase deficiency, Wolman's disease, Gaucher's disease). IV. Combined defects in lipid and carbohydrate metabolism (mucolipidoses). V. Other inherited metabolic disorders: (1) aminoacidopathies (cystinosis, Wilson's disease, ochronosis, Chediak-Higashi syndrome), (2) hemochromatosis.

Amino Acid Metabolism, Inborn Errors↗
PubMed1980

[2 cases of familial alkaptonuria with neurological complications].

Two cases of alcaptonuria in siblings treated at a neurological hospital department for lumbar disc lesions with radicular symptoms are reported. Presence of ochronosis and characteristic radiological changes were demonstrated in the spine and iliac joints. The diagnosis was confirmed by biochemical investigations. The serum level of homogentisic acid was low (below 1 mg/100 ml) and its elimination with 24-hour urine was raised (1.27 to 1.89 g).

Alkaptonuria↗
PubMed1994

[Osteoarthritis of rare etiology].

Although osteoarthritis is characterized by a uniform pattern of clinical and radiological manifestations, it is a syndrome that can be produced by a variety of causative factors. Rare causes of osteoarthritis can be categorized as follows: 1) systemic metabolic disorders due to known biochemical and/or genetic abnormalities, such as hemochromatosis, ochronosis, Wilson's disease, Ehlers-Danlos syndrome (and probably the "idiopathic" joint hypermobility syndrome), sickle cell anemia, and thalassemia; 2) endocrine disorders, such as acromegaly, whose joint manifestations are now well-known, and hypothyroidism; 3) Paget's disease of bone, osteopetrosis (which induces changes in bone elasticity), and other systemic bone diseases; 4) dysplasias, which form a vast group including familial polyepiphyseal dysplasia, spondyloepiphyseal dysplasia congenita (especially its milder forms), Stickler's syndrome, osteo-onychodysplasia, Kniest's dysplasia, trichorhinopharyngeal syndrome, and a group of diseases that affect the epiphyses; 5) endemic forms of osteoarthritis, e.g., Mselini disease, Kashin-Beck disease, and Malnad disease, which are unknown in western Europe but have been reported to affect thousands of individuals in endemic areas. All these disorders are usually responsible for premature osteoarthritis, whose presentation sometimes bears the imprint of the causative abnormality but can be identical to that of common osteoarthritis. The effects of toxic substances (Kashin-Beck disease) or genetically-determined collagen II abnormalities (epiphyseal dysplasias) may explain the occurrence of these rare forms of premature osteoarthritis.

Bone Diseases↗
PubMed1994

[Dermatologic complications of the cosmetic use of bleaching agents in Bamako (Mali)].

OBJECTIVES: This study was conducted to determine the dermatological complications related to the use of bleaching agents in Bamako, Mali. Patients who were referred to the Marchoux Institute with complications were studied retrospectively. Over a period of 1 year, 74 complications were observed including acne (n = 25), infectious dermatoses modified by the application of local corticosteroids, and in particular dermatophytosis (n = 15), dyschromia (n = 11, including 3 cases of exogenous ochronosis), contact eczema, papular annular lesions and vibices. This pathology is frequent in Bamako and the diagnosis is quite difficult since the patients usually deny use of bleaching agents.

Adult↗
PubMed1994

[Disk calcinosis].

Intervertebral disc calcification in children is a rare, primary and benign disease which often disappears after a single painful crisis, especially in cervical involvement. In adults, thoracic and lumbar discs are mainly involved; calcification is less expressive and is often detected during a casual radiograph. Intervertebral disc calcification is primary or secondary to chondrocalcinosis, apatite deposition disease, ochronosis and hemodialysis spondylarthropathy. Except CPPD deposits in chondrocalcinosis, calcium complex accounting for most discal calcinosis is hydroxy-apatite. Iatrogenic intervertebral disc calcification was recently described in patients treated with a discal injection of a long-acting corticosteroid.

Adrenal Cortex Hormones↗
PubMed1994

Black cartilage after therapy with levodopa and methyldopa.

A study was undertaken of 14 autopsy cases with pigmented rib cartilage. Twelve of these patients had been treated with levodopa because of Parkinson's disease for at least 6 years, and two had been treated with methyldopa because of essential hypertension for 19 years. Thirty-two percent of the autopsy cases of Parkinson's disease during a recent 70-month period demonstrated pigmented rib cartilage. Only one of them also demonstrated pigmentation of intervertebral disks. No abnormal pigmentation was seen in other sites. The pigment was located in the hyaline matrix of rib cartilage and in necrotic chondrocytes. Levodopa was chromatographically demonstrated within the cartilage of patients with Parkinson's disease, but in both pigmented and unpigmented sites. It is speculated that a pigmented drug metabolite is bound preferentially to the matrix of rib cartilage. Dopa pigmentation only occurs in cartilage and differs in several respects from endogenous and exogenous ochronosis. It appears to be harmless but irreversible.

Aged↗