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PubMed1987

Photodermatoses in Lagos.

Light-sensitive dermatoses do not constitute a major problem among the black people in Nigeria. In a 10-year study, only 64 cases (about 0.4% of all dermatologic patients) had light-sensitive dermatoses. Seven of the 10 patients with endogenous photodermatoses were albinos. Two patients with polymorphic light eruption were visiting Caucasians. Only one normally pigmented black Nigerian had xeroderma pigmentosum. Fifty-four patients had photodermatoses from exogenous causes, of which hydroquinone-induced exogenous ochronosis constituted the largest group of patients. Two women had estrogen-induced porphyria cutanea tarda.

Black People↗
PubMed2006

Premature arthritis in an elderly woman.

We, in this study, report a 72-year-old woman presenting with premature osteoarthritis of the spine, the hips, the knees and the shoulders symptomatic since the age of 50 years. The initial presentation of backache led to a mistaken diagnosis of ankylosing spondylitis. Subsequent manifestation of characteristic discoloration of her sclera and overnight dark urine led to the correct diagnosis of ochronosis.

Age of Onset↗
PubMed1977

Biochemical identification of homogentisic acid pigment in an ochronotic egyptian mummy.

Roentgenograms of an Egyptian mummy, dating from 1500 B.C., showed extensive calcification of the intervertebral discs and articular narrowing in both hip and knee joints. Biopsy cores from the right hip showed parallel black zones in the region of the articular surfaces, leading to a clinical diagnosis of ochrinosis. The black pigment was extracted, analyzed, and compared to an air-oxidized homogentistic acid polymer. The two substances apparently were identical. The chemical evidence thus confirms the clinical finding of ochronosis, an autosomal recessive disorder. This is, so far as known, the earliest verified case of this disorder.

Cartilage↗
PubMed1983

Calcium pyrophosphate dihydrate (CPPD) deposition in ochronotic arthropathy.

The post-mortem examination of an unsuspected case of alkaptonuria revealed extensive ochronosis. Histological examination of undecalcified sections of tracheal, costal, femoral and patellar cartilage revealed, in addition to ochronotic pigment, extensive calcium pyrophosphate dihydrate (CPPD) deposition. Similar deposits were present in intervertebral discs and were related to ossification of the discs resulting in partial or complete ankylosis. The calcific deposits were present around chondrocytes in the articular cartilage and this may be an important factor in the initiation of the osteoarthrotic process which characterises ochronotic arthropathy as it affects large diarthrodial joints.

Aged↗
PubMedDate not supplied

Ochronotic arthropathy: structural and ultrastructural features.

Fragments of articular cartilage and synovial membrane in a case of ochronosis were studied by light microscopy (LM), polarized light, and transmission electron microscopy (TEM). Granular and/or shard-shaped pigments were observed in the synovia, cartilage, and subchondral tissue, and dispersed pigment was also seen in the synovial fluid. Zones of the articular cartilage surface showed small erosions near shards, and sometimes, when the degenerative process was in an advanced stage, a substitutive fibrosis of the cartilage edge was demonstrated. LM and TEM observations of the samples studied revealed an alteration of collagen fibrils that appeared wavy and sometimes fragmented with loss of periodicity. They were always mixed with the dispersed pigment. A peculiar finding that characterized this ochronotic case was the complete absence of inflammatory infiltrates or signs of monocyte-macrophage activation. These structural and ultrastructural observations suggest that the pigment deposition in the articular surfaces was due to the synovial fluid circulation and partially to subchondral blood flow, which transports and stores the ochronotic pigments in the synovia and cartilage. These etiopathologic elements associated with the mechanical pathogenesis naturally present in the joints can contribute to the explanation of the pathogenesis and origin of ochronotic arthropathy.

Arthritis↗
PubMed2003

Alkaptonuria and lumbar disc herniation. Report of three cases.

Alkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). The authors report the cases of three patients with lumbar disc herniation who underwent discectomy and in whom the nucleus pulposus was discovered to be black. Alkaptonuria was diagnosed after discectomy. Discal herniation requiring surgery is unusual in alkaptonuria, with only a few reports. The symptoms in the three patients disappeared after surgery and no symptoms were demonstrated on follow-up examination.

Adult↗
PubMed1999

[Ochronotic changes in alkaptonuria: a case report].

Alkaptonuria is a rare metabolic condition caused by congenital homogentisate oxidase deficiency of recessive autosomal inheritance. Homogentisate polymers are accumulated and cause urine darkening (alcaptonuria), brown/black pigmentation of connective tissue (ochronosis), articular cartilage pathology, osteoporosis and patomorphologic changes in internal organs. A case of 61 female with ochronotic polyarthropathy is presented. An early result of Weller THR is encouraging. Pathogenesis, clinical picture, diagnostics and treatment of alkaptonuria is presented on the ground of the literature.

Alkaptonuria↗
PubMedDate not supplied

Laboratory diagnosis of degenerative joint disease.

Degenerative joint disease (DJD) is characterized by pain on use. X-rays show cartilage narrowing and osteophytes. Synovial effusions are non-inflammatory, i.e. clear wiht good viscosity and less than 2000 WBC per mm. 3 Cartilage fragments may be seen in the joint fluid. Important systemic diseases that can cause degenerative joint disease include ochronosis, hemochromatosis, hyperparathyroidism, acromegaly, Ehlers-Danlos syndrome, diabetes and syphilis with their neuropathic joints, Wilson's disease and hypothyroidism. The late results of other diseases such as rheumatoid arthritis and aseptic necrosis may resemble DJD.

Acromegaly↗
PubMed2003

Spontaneous tendon ruptures in alkaptonuria.

Ochronosis, the musculoskeletal manifestation of alkaptonuria, is known to lead to degenerative changes of the spine and weight-bearing joints. Symptoms related to degeneration of tendons or ligaments with spontaneous ruptures have not previously been reported. Three patients are described with four spontaneous ruptures of either the patellar tendon or tendo Achillis as the first symptom of alkaptonuria.

Achilles Tendon↗
PubMed1979

[The role of ochronotic arthropathies in rheumatology].

In alkaptonuric patients, cartilage, fibrocartilage and tendons are slowly impregnated by homogentisic acid. This leads to pigment deposition between and on the surface of collagen fibres (ochronosis) which hardens the tissues as in leather tanning, and can render them breakable. Ochronotic intervertebral discs show a tendency of calcification and ossification, which produces a characteristic radiological picture. Ochronotic cartilage is rather often split off in the weight bearing zones of the knee, shoulder and hip. This is followed by osteoarthrotic changes with a synovial reaction frequently leading to an osteochondromatosis. The labelling of the pigmented ochronotic cartilage thus can support a didactic demonstration of the nature of osteoarthrotic remodelling. It underlines that such remodelling consists mainly of non specific changes developing independently of the cause of the original cartilage lesion.

Alkaptonuria↗
PubMed1977

[Associated and secondary chondrocalcinosis].

The authors consider the problems posed by secondary and associated chondrocalcinosis (CCA) on the basis of a study carried out at many French Rheumatology centres (Centres de Rhumatologie Française) and in the light of data in the literature. CCA is associated with gout in 4 percent of cases, with hyperparathyroidism in 3.9 percent of cases, with haemochromatosis in 1.7 percent of cases and with hypothyroidism in 0.8 percent of cases. The existence of secondary CCA in gout, hyperparathyroidism, haemochromatosis, Wilson's disease, ochronosis, hypophosphatasia and perhaps hypothyroidism seems proven. These secondary cases of CCA represent 10.7 percent of the total 1226 : here CCA seems to form one element of a much broader syndrome, namely the metabolic arthropathies. The other associations, with the exception of those which are not considered in this paper (rheumatoid polyarthritis, diabetes mellitus, Paget's disease, osteochrondromatosis, acromegalia), are probably coincidental.

Arthritis, Rheumatoid↗
PubMed1988

[Ochronotic arthropathy in alkaptonuria. Radiological manifestations and physiopathological signs].

Alkaptonuria is a rare autosomal recessive metabolic disease, due to the lack of homogentisic acid oxidase. The following accumulation of homogentisic acid brings about a black discoloration of both the urine (alkaptonuria) and connective tissue (ochronosis). The ochronotic alterations into joint cartilages cause degenerative arthropathy and osteopenia. The radiological features of three unrelated cases of alkaptonuria are reported. Radiographic abnormalities of ochronotic arthropathy are found in both the spine and the extraspinal joints. In the spine, the progressive calcification and "vacuum" phenomenon of disc spaces are the most characteristic findings. Disc space narrowing is associated with calcification and marginal sclerosis of vertebral bodies and is accentuated by osteopenia. Osteophytes are usually absent or of small size; nevertheless progressive formation of marginal intervertebral bridges and obliteration of disc spaces at multiple levels ("pseudoblock vertebrae") may occur. In extraspinal sites, space narrowing, bone sclerosis and fragmentation may also be observed. Diagnosis of ochronotic arthropathy is often suggested by radiographs of the spine, and it is confirmed afterwards by clinical and laboratory findings. The characteristic radiological findings of ochronotic spondylitis, in the final stage, include narrowing of at least four lumbar disc spaces, associated with their calcification and "vacuum" phenomenon, "pseudoblock vertebrae", marginal sclerosis and osteopenia of vertebral bodies.

Aged↗
PubMedDate not supplied

[A rare case of high dorsal radicular-medullary compression in a patient with ochronotic arthropathy. Clinico-radiological features].

Alkaptonuria is a rare, hereditary, metabolic disease in which homogentisic acid, an intermediary product in the metabolism of phenylalanine and tyrosine, cannot be further metabolized. The metabolic defect causes a characteristic triad of homogentisic aciduria, ochronosis, and arthritis. The cause of this disease is a constitutional lack of the enzyme homogentisic acid oxidase. The condition is inherited as an autosomal recessive disease. The ochronotic arthritis affects mainly male subjects after fourty. Authors present a case of a 60 years old man suffering from a generalized ochronotic arthritis since 1976. From 1992 summer to the beginning of 1993 the patient developed a progressive weakness in the lower limbs associated with thoracic back pain and subsequently a spastic paraparesis. These symptoms were related to a vertebral compression due to D4-D5 pathologic fracture. In spite of a decompressive operation the neurologic symptoms didn't improve.

Aged↗
PubMed1994

[Alkaptonuria and ochronotic arthropathy. Arthroscopic and intraoperative findings in implantation of a knee joint surface replacing prosthesis].

Alcaptonuria is a rare (incidence approx. 1:10(6)), autosomal-recessive transmitted metabolic disease. The basic defect is a lack of the enzyme homogentisic acid oxidase. During metabolism of phenylalanin and tyrosin to fumaric acid and acetoacetic acid this enzymatic defect causes an accumulation of the intermediate breakdown product homogentisic acid in bradytrophic tissues resulting in pigmentation and calcification of the intervertebral disks. We present a 57 year old female patient in whom we diagnosed alcaptonuria by the appearance of the typical symptom trias homogentisic acid excretion in the urine, ochronosis and arthritis. The anamnesis and results of a knee arthroscopy, radiographic and laboratory examinations as well as the intraoperative and histological findings during implantation of a knee joint surface replacing prosthesis (Gemini-System, Link Co., Hamburg, Germany) are reported.

Alkaptonuria↗
PubMed1997

Contribution of immunological mechanism in a case of ochronotic arthropathy.

We have studied cell mediated and humoral response on the synovial fluid and peripheral blood of a 60-year-old man affected by ochronosis. Results showed raised percentages of CD3+, CD8+, HLA-DR+ and CD25+ T cells, presence of TNF, enhanced levels of immunoglobulins and low levels of C3 in the synovial fluid, and a higher rate of HLA-DR+ and CD25+ T lymphocytes in peripheral blood. These data suggest a possible role of immunological response the evolution of an ochronotic arthropathy.

Humans↗
PubMed1995

Melasma. Etiologic and therapeutic considerations.

BACKGROUND: Melasma is a common acquired symmetric hypermelanosis characterized by irregular light- to gray-brown macules and patches involving sun-exposed areas of skin. Etiologic factors in the pathogenesis of melasma include genetic influences, exposure to UV radiation, pregnancy, hormonal therapies, cosmetics, phototoxic drugs, and antiseizure medications. OBSERVATIONS: Melasma is often a therapeutically challenging disease, and current treatments include hypopigmenting agents, chemical peels, and lasers. Hypopigmenting agents include phenolic and nonphenolic derivatives. Phenolic agents include hydroquinone and hydroquinone combination preparations. Despite controversies regarding the issue of hydroquinone-induced ochronosis, hydroquinone remains the most effective topically applied bleaching agent approved by the Food and Drug Administration for the treatment of melasma. Nonphenolic bleaching agents include tretinoin and azelaic acid. Superficial, medium, and deep chemical peels are more often used in lighter-complexioned patients. Such peels should be used with caution in blacks. Although lasers have demonstrated significant efficacy in the treatment of a variety of hyperpigmentary disorders, their precise efficacy and place in the therapy of melasma have yet to be established. CONCLUSIONS: In the hierarchy of therapies for melasma, the treating physician must consider the devastating psychosocial impact of pigmentary imperfections within the realm of the benefits and risks associated with each treatment.

Administration, Cutaneous↗
PubMed2006

Survey and mechanism of skin depigmenting and lightening agents.

The type and amount of melanin synthesized by the melanocyte, and its distribution pattern in the surrounding keratinocytes, determines the actual color of the skin. Melanin forms through a series of oxidative reactions involving the amino acid tyrosine in the presence of the enzyme tyrosinase. Tyrosinase catalyses three different reactions in the biosynthetic pathway of melanin in melanocytes: the hydroxylation of tyrosine to l-DOPA and the oxidation of l-DOPA to dopaquinone; furthermore, in humans, dopaquinone is converted by a series of complex reactions to melanin. Among the skin-lightening and depigmenting agents, magnesium-l-ascorbyl-2-phosphate (MAP), hydroxyanisole, N-acetyl-4-S-cysteaminylphenol, arbutin (hydroquinone-beta-d-glucopyranoside) and hydroquinone (HQ) are the most widely prescribed worldwide. However, with reports of potential mutagenicity and epidemics of ochronosis, there has been an increasing impetus to find alternative herbal and pharmaceutical depigmenting agents. A review of the literature reveals that numerous other depigmenting or skin-lightening agents are either in use or in investigational stages. Some of these, such as kojic, glycolic and azelaic acids, are well known to most dermatologists. Others have been discovered and reported in the literature more recently. Several depigmentation and lightening agents are discussed, including their historical background, biochemical characteristics, type of inhibition and activators from various sources. In addition, the clinical importance of mushroom tyrosinase as a recent prospect is discussed in this paper.

Biological Products↗
PubMed1994

The human gene for alkaptonuria (AKU) maps to chromosome 3q.

Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity. Patients excrete large amounts of homogentisic acid in their urine and a black ochronotic pigment is deposited in their cartilage and collagenous tissues. Ochronosis is the predominant clinical complication of the disease leading to ochronotic arthropathy, dark urine, pigment changes of the skin, and other clinical features. A mutation causing alkaptonuria in the mouse has mapped to chromosome 16. Considering conserved synteny, we were able to map the human gene to chromosome 3q in six alkaptonuria pedigrees of Slovak origin.

Alkaptonuria↗