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The New England Journal of Medicine Feb 2021
Topics: Alkaptonuria; Arthroplasty, Replacement, Knee; Femur; Homogentisate 1,2-Dioxygenase; Humans; Loss of Function Mutation; Male; Middle Aged; Ochronosis; Patella; Tibia
PubMed: 33535288
DOI: 10.1056/NEJMicm2025932 -
International Journal of Dermatology Jun 2022Exogenous ochronosis is a potential side effect associated with hydroquinone, and treatment is often unsatisfactory. Our study objectives were to review data on... (Review)
Review
Exogenous ochronosis is a potential side effect associated with hydroquinone, and treatment is often unsatisfactory. Our study objectives were to review data on hydroquinone-associated ochronosis to determine risk factors for patients experiencing this adverse event. On September 27, 2020 (MEDLINE/PubMed), and October 30, 2020 (Scopus and Web of Science), databases were searched for "ochronosis + hydroquinone" by both authors to reduce risk basis. PRISMA reporting guidelines were used to select 56 articles with a total of 126 patients with hydroquinone-associated ochronosis. Included articles described hydroquinone-associated ochronosis. Articles were excluded if they had irrelevant content, were non-English language text, and were non-case studies. Full text articles were assessed and recorded. Cross-tabulation analysis was performed on categorical data, and Fisher exact test was performed. Ochronosis was most often reported in middle-aged women (53.2%), of African descent (45.2%), Black races (55.5%), and Fitzpatrick skin types V-VI (52.4%). It was most frequently reported with unknown and hydroquinone concentrations greater than 4% (32.5 and 35.7% cases, respectively). Median duration of use was 5 years, with only four cases reported with courses 3 months or shorter and eight cases reported with use 1 year or less. All patients presented with facial blue-black or gray-blue macules in a reticulate, lace-like fashion. Histopathology consistently showed solar elastosis and brownish-yellow, 'banana-shaped' fibers between degenerated collagen fibers of the papillary dermis. Based on these findings, we conclude that hydroquinone in concentrations above 4% and in treatment courses longer than 3 months may be associated with new-onset ochronosis.
Topics: Alkaptonuria; Female; Humans; Hydroquinones; Middle Aged; Ochronosis
PubMed: 34486734
DOI: 10.1111/ijd.15878 -
Clinics in Dermatology 1989
Review
Topics: Humans; Life Expectancy; Ochronosis; Phenols; Time Factors
PubMed: 2667739
DOI: 10.1016/0738-081x(89)90054-0 -
Postgraduate Medical Journal Oct 2016
Topics: Alkaptonuria; Calcinosis; Humans; Intervertebral Disc; Male; Middle Aged; Ochronosis; Radiography; Scleral Diseases; Spinal Diseases
PubMed: 27197586
DOI: 10.1136/postgradmedj-2016-134174 -
Ophthalmology Nov 2022
Topics: Humans; Alkaptonuria; Ochronosis
PubMed: 35773072
DOI: 10.1016/j.ophtha.2022.03.012 -
Deutsches Arzteblatt International Apr 2018
Topics: Eye Diseases; Humans; Male; Middle Aged; Ochronosis; Tyrosine
PubMed: 29739500
DOI: 10.3238/arztebl.2018.0286a -
La Revue de Medecine Interne Nov 2022Ochronosis, also known as alkaptonuria, is a rare autosomal recessive disease. It is caused by a lack of homogentisic acid oxidase, which causes homogentisic acid...
INTRODUCTION
Ochronosis, also known as alkaptonuria, is a rare autosomal recessive disease. It is caused by a lack of homogentisic acid oxidase, which causes homogentisic acid deposition in the tissues.
CASE REPORT
We report a 69-year-old patient who presented with chronic mechanical low back and radicular pain. The clinical examination revealed lumbar lordosis loss, lumbar spinal stiffness, and knee joint limitations of range of motion. On an extra-articular level, the pavilions of the ears and the internal angles of the eyes had a bluish color. Extensive lumbar disc calcifications, vacuum discal phenomenon and osteophytic bridges were demonstrated on standard radiographs of the spine. Clinical and radiographic criteria were used to make the diagnosis of ochronosis.
CONCLUSION
Alkaptonuria is a degenerative arthropathy that leads to reduction of functional ability. The use of molecular analysis and genetic research is useful.
Topics: Humans; Aged; Ochronosis; Alkaptonuria; Homogentisic Acid; Radiography; Knee Joint
PubMed: 35659777
DOI: 10.1016/j.revmed.2022.05.003 -
Urology Feb 2017Alkaptonuria is a rare autosomal recessive disorder of tyrosine metabolism. Deficiency of homogentisate 1,2 dioxygenase results in accumulation of oxidized homogentisic...
Alkaptonuria is a rare autosomal recessive disorder of tyrosine metabolism. Deficiency of homogentisate 1,2 dioxygenase results in accumulation of oxidized homogentisic acid in the connective tissues of the skin, eyes and ears, musculoskeletal system, and cardiac valves, and in urolithiasis. Excretion of excessive homogentisic acid in urine causes dark-colored urine on exposure to air. We present a case of alkaptonuria with multiple system involvement, who presented with lower urinary tract symptoms secondary to vesical and prostatic calculi.
Topics: Alkaptonuria; Humans; Male; Middle Aged; Ochronosis
PubMed: 27816602
DOI: 10.1016/j.urology.2016.09.035 -
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 -
Joint Bone Spine Nov 2022
Topics: Humans; Ochronosis; Intervertebral Disc; Intervertebral Disc Displacement; Calcinosis
PubMed: 35504514
DOI: 10.1016/j.jbspin.2022.105395