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International Journal of Dermatology Aug 2008
Review
Topics: Acrodermatitis; Adult; Biopsy, Needle; Diagnosis, Differential; Elasticity; Female; Follow-Up Studies; Hand Dermatoses; Homogentisic Acid; Humans; Immunohistochemistry; Keratosis; Ochronosis; Severity of Illness Index; Urinalysis
PubMed: 18717880
DOI: 10.1111/j.1365-4632.2008.03585.x -
Deutsche Medizinische Wochenschrift... May 1993
Topics: Alkaptonuria; Humans; Male; Ochronosis
PubMed: 8500425
DOI: No ID Found -
Orvosi Hetilap May 1969
Topics: Alkaptonuria; Humans; Male; Middle Aged; Ochronosis
PubMed: 5770962
DOI: No ID Found -
Kyobu Geka. the Japanese Journal of... Nov 2020Alkaptonuria is a rare hereditary disorder of phenylalanine and tyrosine metabolism, which results in ochronosis of cardiovascular structures including valves, aortic...
Alkaptonuria is a rare hereditary disorder of phenylalanine and tyrosine metabolism, which results in ochronosis of cardiovascular structures including valves, aortic intima, and coronary arteries. Aortic valve disease is the most frequently reported cardiac sequela of alkaptonuria. We report a case of 77-year-old woman with known alkaptonuria who underwent aortic valve replacement for severe aortic stenosis. Operative findings showed impressive ochronosis of the aortic valve and the aortic intima. The post-operative course was uneventful and she was discharged 25 days after the surgery.
Topics: Aged; Alkaptonuria; Aortic Valve; Aortic Valve Stenosis; Female; Heart Valve Prosthesis Implantation; Humans; Ochronosis
PubMed: 33268759
DOI: No ID Found -
Current Opinion in Rheumatology Feb 1991This review presents up-to-date information on many unusual causes of musculoskeletal disorders. These disorders are grouped together because in each there is abnormal... (Review)
Review
This review presents up-to-date information on many unusual causes of musculoskeletal disorders. These disorders are grouped together because in each there is abnormal accumulation of normal materials or accumulation of abnormal materials in cells or interstitial tissues. Most of these conditions or their associated musculoskeletal manifestations are rare. However, they may present to the adult or pediatric rheumatologist for diagnosis or therapy or both. Gout, because of its prevalence, has been excluded from this review, but it is included briefly in the discussion of the specific arthritides associated with hyperlipidemias. Disorders associated with abnormal lipid storage in which bone and joint pathology occur frequently include Gaucher's disease, histiocytosis-X, and multicentric reticulohistiocytosis. The rarer disorders of this type discussed are Fabry's disease, sea-blue histiocytosis, and Farber's disease. The abnormal accumulation of metal ions in hemochromatosis and in Wilson's disease are probably causative, either directly or indirectly, in the musculoskeletal features of these diseases, while in ochronosis, calcium crystal deposition accompanies the cartilage degradation characteristic of this disease.
Topics: Humans; Hyperlipidemias; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Metals; Ochronosis
PubMed: 2043443
DOI: 10.1097/00002281-199102000-00023 -
European Journal of Human Genetics :... Feb 2022Alkaptonuria is characterized by the accumulation of homogentisic acid (HGA), part of which is excreted in the urine but the excess HGA forms a dark brown ochronotic...
Alkaptonuria is characterized by the accumulation of homogentisic acid (HGA), part of which is excreted in the urine but the excess HGA forms a dark brown ochronotic pigment that deposits in the connective tissue (ochronosis), eventually leading to early-onset severe arthropathy. We analyzed a cohort of 48 Russian AKU families by sequencing all 14 exons (including flanking intronic sequences) of the homogentisate 1,2-dioxygenase gene (HGD) and Multiplex Ligation-dependent Probe Amplification (MLPA) analysis. Nine novel likely pathogenic HGD variants were identified, which have not been reported previously in any other country. Recently, Bychkov et al. [1] reported on the variant spectrum in another cohort of 49 Russian AKU patients. Here we summarize complete data from both cohorts that include 82 Russian AKU families. Taken together, 31 different HGD variants were found in these patients, of which 14 are novel and found only in Russia. The most common variant was c.481G>A (p.(Gly161Arg)), present in almost 54% of all AKU alleles.
Topics: Alkaptonuria; Exons; Homogentisate 1,2-Dioxygenase; Homogentisic Acid; Humans; Joint Diseases; Ochronosis
PubMed: 34504318
DOI: 10.1038/s41431-021-00955-1 -
Cutis Jan 2015
Topics: Argyria; Biopsy; Humans; Male; Ochronosis
PubMed: 25671447
DOI: No ID Found -
Zeitschrift Fur Rheumatologie Jun 2014The congenital form of ochronosis is a result of the rare autosomal recessive inherited metabolic disease alkaptonuria. The disruption of tyrosine metabolism based on a... (Review)
Review
The congenital form of ochronosis is a result of the rare autosomal recessive inherited metabolic disease alkaptonuria. The disruption of tyrosine metabolism based on a genetic defect in the enzyme homogentisate dioxygenase results in accumulation of homogentisic acid (HA) which is excreted in the urine and leads to a dark discoloration after a certain incubation time at room temperature. Furthermore, HA polymerizes forming a pigment that is deposited in connective tissues such as tendons, cartilage, bones, intervertebral discs, sclerae, ossicles, cardiac valves and coronary arteries and leads to dark brown discoloration and degeneration. The case of a 74-year-old female patient with ochronosis and classical manifestations is described and in addition a current overview of this rare disease is provided.
Topics: Aged; Alkaptonuria; Anti-Inflammatory Agents, Non-Steroidal; Antirheumatic Agents; Combined Modality Therapy; Diagnosis, Differential; Female; Humans; Ochronosis; Osteoarthritis; Physical Therapy Modalities; Treatment Outcome
PubMed: 24924728
DOI: 10.1007/s00393-013-1343-2 -
Klinische Monatsblatter Fur... Apr 2020
Topics: Conjunctiva; Cornea; Humans; Hyperpigmentation; Ochronosis; Sclera
PubMed: 32330984
DOI: 10.1055/a-1112-7292 -
International Journal of Dermatology Jun 2008
Review
Topics: Administration, Cutaneous; Asian People; Dermatologic Agents; Female; Humans; Hydroquinones; Melanosis; Middle Aged; Ochronosis; Pigmentation Disorders; Skin
PubMed: 18477169
DOI: 10.1111/j.1365-4632.2008.03448.x