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At least 91 records · Page 5Linked to original sources
PubMed1975

Exogenous ochronosis and pigmented colloid milium from hydroquinone bleaching creams.

An outbreak of ochronosis and colloid milium is described after the use of strong hydroquinone bleaching creams. These phenomena developed only after a few years, and took place when the melanocytes had overcome the bleaching influence. Sun-exposure and thorough inunction of the cream were required for the more advanced changes. Analogous changes have been seen when the skin is exposed to certain crude fuels in individuals working in the sun, and phenolic components in the fuels are suspected. The study presented here covers the clinical, histological, histochemical, electron microscopical and pathogenetic features as seen in thirty-five cases of hydroquinone damage to the dermis in South Africa.

Adult↗
PubMed1999

Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.

AIMS: To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and cornea. METHODS: A mutation screen of the entire coding region of the HGO gene was performed using single stranded conformational analysis after polymerase chain reaction with oligonucleotide primers flanking all 14 exons of the HGO gene. Fragments showing aberrant mobility were directly sequenced. RESULTS: Two homozygous missense mutations, L25P and M368V, were identified, each of which leads to the replacement of a highly conserved amino acid in the HGO protein. CONCLUSIONS: The authors describe a novel mutation, L25P, in the German population and bring to 18 the total number of known HGO mutations.

Aged↗
PubMed1983

Alkaptonuria and ochronosis. A survey and 5 cases.

A survey of alkaptonuria and ochronosis is given, based on the literature and on 5 additional cases. The disease, which is autosomal recessive, results from a decreased amount of the enzyme homogentisic acid oxidase, due to which tyrosine and phenylalanine cannot be broken down via the normal pathway. The diagnosis is made by determination of urinary urinary homogentisic acid excretion, as the clinical and radiological findings are not pathognomonic. The symptoms, which extend over decades, result from the deposition of pigment in the extracellular macromolecules of the connective tissue, particularly of the skin and joints.

Adult↗
PubMed1978

Aortic valve replacement for ochronosis of the aortic valve.

A patient with generalized ochronosis developed severe cardiovascular symptoms related to ochronotic deposits on the aortic valve and in the coronary arteries. A transvalvular gradient of 100 mm Hg and obstruction of the left anterior descending coronary artery were found by catheterization. Aortic valvular replacement and aortocoronary bypass were performed successfully, and the patient has been well two years since operation. This represented the first reported case of aortic valve replacement for this rare metabolic condition. With increased mobility of these patients due to aggressive orthopedic joint treatment, more patients with this syndrome may require surgery for cardiovascular symptoms.

Aortic Valve↗
PubMed1999

Hereditary ochronosis: hyperpigmented skin overlying cartilaginous structures.

Hereditary ochronosis, or alkaptonuria, results from deficiency of homogentisic acid oxidase. It is an autosomal recessive condition found in geographically isolated populations. The excess homogentisic acid deposits in collagenous structures, leading to unusual pigmentation of the skin overlying cartilaginous structures, but on occasion pigment is also seen in the sclera, in sweat after oxidation, and classically, in urine when left standing at room temperature. This case report highlights the pathogenesis and expression of this rare disorder.

Adult↗
PubMed2001

[Diagnostic image (45). Ochronosis].

In a 70-year-old woman, in whom ochronosis (alkaptonuria) was diagnosed at the age of 54, bluish discolouration of the cartilage of the ears was observed.

Aged↗
PubMed2001

Primary multiple miliary osteoma cutis and exogenous ochronosis.

Multiple miliary osteoma cutis (MMOC), a rare disorder characterized by the appearance of numerous bony nodules on the face, was initially classified as a consequence of severe, long-standing acne vulgaris. However, several cases have now been described in patients with no preceding history of acne or other inflammatory conditions. We report such a case of primary MMOC in a 75-year-old African American woman and highlight the differences between these conditions. We also note the incidental histologic finding of exogenous ochronosis, which, in our case, indicates the patient's use of hydroquinone-containing bleaching creams in an attempt to treat the disorder.

Aged↗
PubMed1976

Multiple vacuum discs, and early sign of ochronosis. Radiologic findings in two brothers.

Two brothers with ochronosis are reported and the radiological features of ochronotic vertebral disease are reviewed. A striking feature was the presence of multiple vacuum discs. This "vacuum phenomenon" constitutes one of the earliest radiologic changes in the spine and presumably represents areas of severe degeneration within the intervertebral discs. Other features included a dark pigmentation of the urine after standing or following the addition of sodium hydroxide, and calcification within the cartilages of the ears and intervertebral discs. There was no abnormality of the peripheral joints and pigmentary deposits in the ears, sclerae, or skin were not observed.

Adult↗
PubMed1992

[A rare metabolic disease: alkaptonuria--ochronosis].

The authors describe the case of a 40-year-old female patient. Since childhood her urine had caused black discoloration on her underwear. For about a year the skin of the axillae and pinnae had been bluish-black without subjective complaints. One year before admission, pain in the thoracic and lumbar spine began, with limitation of motion. Examination of the urine, histological and electron microscopical findings, and X-ray examination of the spinal column confirmed the diagnosis of alkaptonuria and congenital ochronosis.

Adult↗
PubMed2003

[Case report of a patient with ochronosis and arthroplasty of the hip and both knees].

Alkaptonuria is a rare hereditary metabolic disorder characterised by absence of the enzyme homogentisic acid oxidase. As a result of this defect homogentisic acid accumulates and is excreted in the urine. The term ochronosis is used to describe bluish-black pigmentation of connective tissue. Ochronotic arthropathy results from the pigmented deposits in the joints of the appendicular and axial skeleton. Findings simulate those of uncomplicated degenerative joint disease, with effusion, articular space narrowing, and bony sclerosis. Our patient is a 70-year old male with ochronotic arthropathy. He has typical ears and sclera discoloration, and had arthroplasty of knees 7 and 4 years ago, respectively. In year 2002, he had undergone total right hip arthroplasty and has been admitted for rehabilitation 14th postoperative day. Individually designed rehabilitation regimen included kinesitherapy, hydrokinesitherapy, and ambulation training with gradual increase in weight bearing exercises and electro-analgesia of associated low back pain. In course of rehabilitation our patient improved his endurance with satisfying range of motion of right hip (flexion 90 degrees, abduction 40 degrees) and strength of hip and thigh musculature. The patient was able to walk with crutches without limitation. We conclude that joint destruction followed by painful locomotion due to ochronotic arthropathy is best treated by total joint arthroplasty, as described in our patient.

Aged↗
PubMed1992

[An unusual cause of chronic back symptoms: ochronosis].

A patient with low back pain due to ochronosis, a rare inherited metabolic disease, is described. The clinical picture of this disorder is exposed. Highlighted are the signs of recognition: early degenerative changes of, especially lumbar, intervertebral discs with linear calcifications and vacuum phenomena together with dark pigmentation of ear lobes and sclerae as well as (alkaline) urine turning black on prolonged standing.

Adult↗
PubMed2006

Exogenous ochronosis.

We describe a case of a 70-year-old woman who had been using a skin-lightening cream containing hydroquinone for a previous diagnosis of melasma. She presented a hyperpigmentation predominantly on her cheeks and eyebrows. The biopsy showed deposition of yellow-brown globules in the dermis. A diagnosis of exogenous ochronosis was made. An attempt of treatment using a Q-switched Nd:YAG laser has been initiated recently.

Aged↗
PubMed1992

[Alkaptonuria-ochronosis].

The authors describe the case of a 40-year old female patient. Since her childhood she realised of her urine the black discoloration of the underwear. For about a year, without subjective complaints, blue-black color of the skin involved the axillae and pinnae. For a year appeared the increased pain of thoracal and lumbal spine column and the limitation of motion of these parts. The examination of urine, histological and electron microscopical findings, the X-ray photograph of the spinal column confirmed the diagnosis of alkaptonuria or rather congenital ochronosis.

Adult↗
PubMed1992

[Exogenous ochronosis, a little-known side effect of hydroquinone-containing ointments].

Two patients with exogenous ochronosis, an unfamiliar side effect of hydroquinone-containing bleaching creams, are presented. This disorder is characterized by progressive darkening of the area to which the cream is applied. Histologically there is deposition of yellow-brown pigment in the dermis, in addition to degeneration of collagen and elastic fibres. The chemical composition of the ochronotic material and the pathogenesis of this paradoxical effect of hydroquinone are unknown. Hydroquinone containing creams should not be used for longer than two years. If there is no improvement within six months, application should be discontinued.

Adult↗
PubMed1991

Ocular ochronosis from alkaptonuria.

Alkaptonuria is an extremely rare, autosomal recessive disorder in which the metabolic enzyme homogentisic acid oxidase is deficient. A common sequelae is the subsequent accumulation of homogentisic acid in collagenous tissues, such as the sclera, nose and ear lobes. The blue-black pigmentation found in patients with alkaptonuria is called ochronosis. Another ocular sign includes amber-colored oil globulation within Bowmans membrane of the cornea.

Aged↗
PubMed1990

Coexistence of ochronosis and ankylosing spondylitis.

We describe a 65-year-old woman with ochronosis and ankylosing spondylitis. The coexistence of these 2 diseases has not previously been described. Differential radiological features of these conditions, which share some resemblances from the clinical point of view, are highlighted.

Aged↗