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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 -
Dermatology Online Journal Dec 2014We present a case of exogenous ochronosis in a 53-year-old woman with skin type IV, who used a topical hydroquinone preparation of an unknown concentration for several...
We present a case of exogenous ochronosis in a 53-year-old woman with skin type IV, who used a topical hydroquinone preparation of an unknown concentration for several years. Traditionally, exogenous ochronosis was thought to occur exclusively in patients with darker skin types who use high concentrations of hydroquinone cream. Reports now document cases in patients of all skin types and in patients even using low concentrations of hydroquinone cream for short periods of time. Although the incidence of exogenous ochronosis in the United States is unclear, it may be more common than many clinicians believe. It is important for clinicians and patients to be aware of exogenous ochronosis in order to prevent exacerbation in patients with this rare side effect.
Topics: Antioxidants; Facial Dermatoses; Female; Humans; Hydroquinones; Middle Aged; Ochronosis
PubMed: 25526333
DOI: No ID Found -
Dermatology Online Journal Nov 2010A 69-year-old woman presented with a 30-year history of lower back and large joint pain of the hips and shoulders. On examination blue-grey, pigmented macules were...
A 69-year-old woman presented with a 30-year history of lower back and large joint pain of the hips and shoulders. On examination blue-grey, pigmented macules were present over the cartilaginous portions of the ears and on the sclera. Past medical history included aortic stenosis. Urine homogentisic acid level was elevated, which is diagnostic for alkaptonuria. Alkaptonuria is an autosomal recessive disorder that results in deficiency of homogentisic acid oxidase and in the accumulation of homogentisic acid in connective tissue. Disease can result in blue-grey pigmentation of the cartilage, sclerae, face, and hands as well as severe arthropathy and cardiac valve disease. Treatment is limited at this time. Promising early reports of the use of nitisinone have prompted ongoing trials of this therapeutic agent.
Topics: Aged; Alkaptonuria; Arthritis; Cyclohexanones; Female; Homogentisic Acid; Humans; Joint Diseases; Nitrobenzoates; Ochronosis; Pigmentation Disorders
PubMed: 21163157
DOI: No ID Found -
Deutsches Arzteblatt International Apr 2018
Topics: Eye Diseases; Humans; Male; Middle Aged; Ochronosis; Tyrosine
PubMed: 29739500
DOI: 10.3238/arztebl.2018.0286a -
Indian Journal of Dermatology Mar 2011A case of alkaptonuria, a rare disorder with autosomal recessive inheritance, is reported here. The patient had palmar pigmentation in addition to the usual features of...
A case of alkaptonuria, a rare disorder with autosomal recessive inheritance, is reported here. The patient had palmar pigmentation in addition to the usual features of alkaptonuria.
PubMed: 21716546
DOI: 10.4103/0019-5154.80415 -
Proceedings of the Royal Society of... 1908
PubMed: 19972765
DOI: No ID Found -
Rheumatology and Immunology Research Jun 2022
PubMed: 36465319
DOI: 10.2478/rir-2022-0009 -
Journal of Research in Medical Sciences... Oct 2015
PubMed: 26929770
DOI: 10.4103/1735-1995.172800 -
Indian Journal of Dermatology,... 2016
Topics: Aged; Female; Humans; Hyperpigmentation; Keratosis; Ochronosis
PubMed: 27320769
DOI: 10.4103/0378-6323.184204