975 results match your criteria Ochronosis


Family history of ochronotic arthropathy.

Rheumatol Int 2020 Jul 8. Epub 2020 Jul 8.

Department of Rheumatology, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.

Alkaptonuria is a rare autosomal-recessive disorder that produces accumulation of homogentisic acid in body fluids. The accumulation in collagen tissues, mainly in the joint cartilage, produces ochronotic arthropathy. We report two clinical cases of one brother and sister with alkaptonuria and ochronotic arthropathy diagnosed in old age. Read More

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http://dx.doi.org/10.1007/s00296-020-04640-2DOI Listing

Long-term follow-up of bilateral hip and knee arthroplasty secondary to ochronotic arthropathy.

Arthroplast Today 2020 Jun 26;6(2):214-219. Epub 2020 Feb 26.

Department of Orthopedic Surgery, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.

Alkaptonuria is a rare metabolic disorder caused by the deficiency of homogentisic acid oxidase enzyme, which is responsible for eliminating homogentisic acid from the body through the renal system. Excessive accumulation of homogentisic acid leads to ochronosis and ochronotic arthritis. Owing to the rarity of the disease, long-term functional outcomes of joint replacements of the hips and knees in ochronosis arthropathy are unconfirmed, and only a limited number of case reports are available on this. Read More

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http://dx.doi.org/10.1016/j.artd.2020.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303484PMC

Total knee arthroplasty for Ochronosis induced knee arthropathy. Case report.

Int J Surg Case Rep 2020 Jun 11;72:260-265. Epub 2020 Jun 11.

Hamad Medical Corporation, Doha, Qatar.

Introduction: Alkaptunurea is a rare metabolic disorder with autosomal recessive genetic pattern in transmission, it is characterized by accumulation of hemogenistic acid in the tissues due to deficiency of homogentisate 1,2 dioxygenase activity. Characteristically, affected patient will have dark urine and blackish discoloration of connective tissue, especially cartilage and bone and hence it is known as black bone disease.

Presentation Of The Case: The reported case is for 49 years old gentleman, known to have hypertension, hypothyroidism and Alkaptunurea. Read More

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http://dx.doi.org/10.1016/j.ijscr.2020.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303561PMC

Cardiovascular ochronosis.

Cardiovasc Pathol 2020 Sep - Oct;48:107219. Epub 2020 Mar 7.

Baylor Scott & White Heart and Vascular Institute, Baylor University Medical Center, Baylor Scott & White Health, Dallas, Texas, USA; Department of Pathology, Baylor University Medical Center, Baylor Scott & White Health, Dallas, Texas, USA; Department of Internal Medicine (Division of Cardiology), Baylor University Medical Center, Baylor Scott & White Health, Dallas, Texas, USA. Electronic address:

In this review, we summarize previously reported case reports (n=66) in which the presence of ochronotic pigment was found in one or more cardiovascular structures either at necropsy or after operative excision of a cardiac valve or portions of arteries or both. As illustration, we describe black pigment in operatively excised aortic valves and aorta in 2 patients, both probably examples of secondary ochronosis. Ochronosis appears to have fascinated a number of prominent historical figures in medicine, and this review also summarizes their important contributions to this topic. Read More

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http://dx.doi.org/10.1016/j.carpath.2020.107219DOI Listing

Aortic distensibility in alkaptonuria.

Mol Genet Metab 2020 Aug 18;130(4):289-296. Epub 2020 May 18.

National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, United States of America. Electronic address:

Introduction: Alkaptonuria (AKU) is a rare inherited disorder of tyrosine metabolism resulting in an accumulation of homogentisic acid oxidation products in the joints and cardiovascular system. Aortic distensibility may be a non-invasive indicator of cardiovascular complications. Descending thoracic aortic distensibility in alkaptonuria has not been studied. Read More

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http://dx.doi.org/10.1016/j.ymgme.2020.05.006DOI Listing

Rare Hyperpigmentation of the Conjunctiva and Sclera: Ochronosis.

Klin Monbl Augenheilkd 2020 Apr 24;237(4):417-418. Epub 2020 Apr 24.

Ambimed Tagesklinik, Basel, Switzerland.

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http://dx.doi.org/10.1055/a-1112-7292DOI Listing

Alkaptonuric ochronosis of the carotid artery.

SAGE Open Med Case Rep 2020 2;8:2050313X20915411. Epub 2020 Apr 2.

Department of Surgery, Tufts Medical Center, Boston, MA, USA.

Alkaptonuria is a rare autosomal-recessive metabolic disorder of tyrosine degradation which results in elevated levels of circulating homogentisic acid. Ochronosis occurs when homogentisic acid polymerizes and deposits in connective tissue. Ochronotic lesions in the carotid arteries have not been described. Read More

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http://dx.doi.org/10.1177/2050313X20915411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139170PMC

Pigmentation Chemistry and Radical-Based Collagen Degradation in Alkaptonuria and Osteoarthritic Cartilage.

Angew Chem Int Ed Engl 2020 Jul 14;59(29):11937-11942. Epub 2020 May 14.

Leibniz-Forschungsinstitut für Molekulare Pharmakologie, im Forschungsverbund Berlin e.V. (FMP), Campus Berlin-Buch, Robert-Rössle-Str. 10, 13125, Berlin, Germany.

Alkaptonuria (AKU) is a rare disease characterized by high levels of homogentisic acid (HGA); patients suffer from tissue ochronosis: dark brown pigmentation, especially of joint cartilage, leading to severe early osteoarthropathy. No molecular mechanism links elevated HGA to ochronosis; the pigment's chemical identity is still not known, nor how it induces joint cartilage degradation. Here we give key insight on HGA-derived pigment composition and collagen disruption in AKU cartilage. Read More

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http://dx.doi.org/10.1002/anie.202000618DOI Listing
July 2020
11.261 Impact Factor

Total knee prosthesis in a patient diagnosed with ochronotic arthropathy.

Rev Esp Cir Ortop Traumatol 2020 Mar 16. Epub 2020 Mar 16.

Servicio de Cirugía Ortopédica y Traumatología, Hospital Clínic de Barcelona, Barcelona, España.

Ochronosis is a rare genetic disease of phenylamine and tyrosine metabolism in which an accumulation of homogentisic acid occurs. The accumulation of HGA causes alkaptonuria and deposition in the connective tissue causing a dark colouring of the tissue. In the joints, it can lead to early and very disabling arthropathy, known as ochronotic arthropathy. Read More

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http://dx.doi.org/10.1016/j.recot.2020.01.005DOI Listing

Alkaptonuria: Current Perspectives.

Appl Clin Genet 2020 23;13:37-47. Epub 2020 Jan 23.

Department of Human Genetics, Biomedical Research Center, Slovak Academy of Sciences, Institute of Clinical and Translational Research, Bratislava, Slovakia.

The last 15 years have been the most fruitful in the history of research on the metabolic disorder alkaptonuria (AKU). AKU is caused by a deficiency of homogentisate dioxygenase (HGD), the enzyme involved in metabolism of tyrosine, and is characterized by the presence of dark ochronotic pigment in the connective tissue that is formed, due to high levels of circulating homogentisic acid. Almost 120 years ago, Sir Archibald Garrod used AKU to illustrate the concept of Mendelian inheritance in man. Read More

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http://dx.doi.org/10.2147/TACG.S186773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6986890PMC
January 2020

Ochronosis of the spine mimicking ankylosing spondylitis successfully treated with anakinra.

Joint Bone Spine 2020 Jul 5;87(4):368-369. Epub 2020 Mar 5.

Department of Rheumatology, Cochin Hospital, Paris Descartes University, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jbspin.2020.02.006DOI Listing

Incidentally Discovered Ochronosis Explaining Decades of Chronic Pain.

Fed Pract 2020 Jan;37(1):48-52

is an Internal Medicine Resident at New York University Langone Medical Center, New York City. is a Primary Care Attending Physician and Ambulatory Care Clerkship Director at the VA Greater Los Angeles Healthcare System and Assistant Clinical Professor at the David Geffen School of Medicine at University of California Los Angeles. At the time the article was written Dr. Reyes was a Medical Student at the David Geffen School of Medicine.

Although commonly detected early in life, alkaptonuria, a rare congenital metabolic disorder, can be challenging to diagnosis and treat in older patients. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010342PMC
January 2020

Homogentisic acid affects human osteoblastic functionality by oxidative stress and alteration of the Wnt/β-catenin signaling pathway.

J Cell Physiol 2020 Jan 28. Epub 2020 Jan 28.

Dipartimento di Eccellenza in Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy.

Alkaptonuria (AKU) is a rare disease correlated with deficiency of the enzyme homogentisate 1,2 dioxygenase, which causes homogentisic acid (HGA) accumulation. HGA is subjected to oxidation/polymerization reactions, leading to the production of a peculiar melanin-like pigmentation (ochronosis) after chronic inflammation, which is considered as a triggering event for the generation of oxidative stress. Clinical manifestations of AKU are urine darkening, sclera pigmentation, early severe osteoarthropathy, and cardiovascular and renal complication. Read More

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http://dx.doi.org/10.1002/jcp.29575DOI Listing
January 2020

Presentation of 14 alkaptonuria patients from Turkey.

J Pediatr Endocrinol Metab 2020 Feb;33(2):289-294

Department of Pediatric Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Background Alkaptonuria (OMIM: 203500) is an inborn error of metabolism due to homogentisate 1,2-dioxygenase homogentisic acid 1,2 dioxygenase (HGD) enzyme deficiency. Due to the enzyme deficiency, homogentisic acid cannot be converted to maleylacetoacetate and it accumulates in body fluids. Increased homogentisic acid is converted to benzoquinones, the resulting benzoquinones are converted to melanin-like pigments, and these pigments are deposited in collagen - this process is called ochronosis. Read More

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http://dx.doi.org/10.1515/jpem-2019-0163DOI Listing
February 2020

The color of skin: gray diseases of the skin, nails, and mucosa.

Clin Dermatol 2019 Sep - Oct;37(5):507-515. Epub 2019 Jul 31.

Department of Dermatology, Andrology and STIs, Ain Shams University Hospital, Cairo, Egypt. Electronic address:

Gray diseases are a group of skin disorders characterized mainly by gray discoloration with or without involving the mucous membranes and nails. These diseases may be hereditary or acquired. Some of the better-known hereditary entities are dermal melanocytosis, incontinentia pigmenti, hypomelanosis of Ito, hemochromatosis, ochronosis, and silvery hair syndrome. Read More

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http://dx.doi.org/10.1016/j.clindermatol.2019.07.011DOI Listing

The color of skin: black diseases of the skin, nails, and mucosa.

Clin Dermatol 2019 Sep - Oct;37(5):447-467. Epub 2019 Aug 17.

Department of Dermatology, Temple University Lewis Katz School of Medicine, Philadelphia, Pennsylvania, USA.

Gradations in skin color are a consequence of differing amounts of melanin and their varying distribution. Although many darkly pigmented skin lesions are melanocytic and can be attributed to melanin content, the color of a black lesion can also be due to blood, necrotic tissue, or exogenous pigment. The source, pattern, and distribution of the color in black lesions usually offer important insight into its etiology. Read More

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http://dx.doi.org/10.1016/j.clindermatol.2019.08.003DOI Listing

A Blue-Gray Macule on the Back: Answer.

Am J Dermatopathol 2020 Jan;42(1):65

Department of Dermatology, Hospital of the University of Pennsylvania, Philadelphia, PA.

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http://dx.doi.org/10.1097/DAD.0000000000001267DOI Listing
January 2020

Topical Treatments for Melasma: A Systematic Review of Randomized Controlled Trials

J Drugs Dermatol 2019 Nov;18(11)

Background: Melasma is an acquired skin disease characterized by symmetric hyperpigmentation on sun-exposed areas, particularly on the face. Recently, there has been tremendous scientific interest in novel, safe, and effective topical agents to manage melasma. Objective: To evaluate topical treatments for melasma and provide evidence-based recommendations for clinical use and further research. Read More

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November 2019

[Surgery in the dark - a case of Cardiac Ochronosis].

Rev Port Cir Cardiotorac Vasc 2019 Jul-Sep;26(3):225-227

Serviço de Cirurgia Cardiotorácica, Centro Hospitalar de São João, Porto, Portugal.

Alkaptonuria is a rare genetic disorder related to tyrosine metabolism. The cardiovascular manifestations are rare being the aortic stenosis the most commonly reported. We present a case of 72-year-old women who underwent aortic valve replacement with intraoperative findings in the aortic valve and the aortic wall suggestive of Cardiac Ochronosis. Read More

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December 2019

Exogenous Ochronosis as an Elastotic Disease: A Light-Microscopic Approach.

Am J Dermatopathol 2019 Nov 12. Epub 2019 Nov 12.

Department of Dermatology, Boston University School of Medicine, Boston, MA.

Background: Exogenous ochronosis (EO) is a deposition disease associated with application of hydroquinone-containing preparations. Characteristic ochronotic bodies (OBs) arise from endogenous connective tissues, most often reported as collagen. We highlight a significant role for elastic fibers as a precursor tissue. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001571DOI Listing
November 2019

Total Knee Arthroplasty in Ochronosis Arthropathy: A Case Report and Systematic Review.

Case Rep Orthop 2019 9;2019:1871856. Epub 2019 Oct 9.

Department of Orthopaedic Surgery, Tan Tock Seng Hospital, 11 Jalan Tan Tock Seng, Singapore 308433.

Introduction: Ochronosis arthropathy (OcA) is a rare condition which may be treated with total knee arthroplasty (TKA) at the end stage. The condition is often discovered only intraoperatively and the ideal choice of TKA is unknown.

Case Presentation: A 54-year-old male with worsening chronic bilateral mechanical knee pain had failed conservative therapy. Read More

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http://dx.doi.org/10.1155/2019/1871856DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6803722PMC
October 2019

Alkaptonuria: Spontaneous Achilles tendon rupture: Case report.

Eklem Hastalik Cerrahisi 2019 Dec;30(3):325-8

Department of Orthopedics and Traumatology, Bakırköy Dr. Sadi Konuk Training and Research Hospital, 34147 Bakırköy, İstanbul, Turkey.

Alkaptonuria is an autosomal recessive disease caused by the accumulation of homogentisic acid (HGA) products in the ligament, cartilage, skin and various organs due to the lack of HGA oxidase enzyme. In this article, we present a 61-year-old male patient operated on due to a diagnosis of spontaneous Achilles tendon rupture and diagnosed as alkaptonuria due to the intraoperative color of the tissues and the subsequent examinations. We also reviewed alkaptonuria and its accompanying pathologies in light of the literature. Read More

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http://dx.doi.org/10.5606/ehc.2019.66155DOI Listing
December 2019
1 Read

Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.

J Inherit Metab Dis 2020 Jul 5;43(4):737-747. Epub 2020 Feb 5.

Department of Musculoskeletal Biology, University of Liverpool, Liverpool, UK.

The clinical effects of alkaptonuria (AKU) are delayed and ageing influences disease progression. Morbidity of AKU is secondary to high circulating homogentisic acid (HGA) and ochronosis. It is not known whether HGA is produced by or processed in the kidney in AKU. Read More

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http://dx.doi.org/10.1002/jimd.12181DOI Listing
July 2020
1 Read
3.365 Impact Factor

Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.

Hum Mol Genet 2019 12;28(23):3928-3939

Institute of Ageing and Chronic disease, University of Liverpool, Liverpool, L7 8TX, UK.

Alkaptonuria is an inherited disease caused by homogentisate 1,2-dioxygenase (HGD) deficiency. Circulating homogentisic acid (HGA) is elevated and deposits in connective tissues as ochronotic pigment. In this study, we aimed to define developmental and adult HGD tissue expression and determine the location and amount of gene activity required to lower circulating HGA and rescue the alkaptonuria phenotype. Read More

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http://dx.doi.org/10.1093/hmg/ddz234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073386PMC
December 2019
1 Read
6.393 Impact Factor

ARTHROPLASTY IN ALKAPTONURIC OCHRONOSIS.

J Popul Ther Clin Pharmacol 2019 07 26;26(2):e20-e24. Epub 2019 Jul 26.

UCM Malta, Ludes Lugano Campus, Lugano, Switzerland.

Ochronotic degenerative arthropathy occurs in patients with alkaptonuria. Alkaptonuria disorder is an extremely rare disease characterized by black pigmentation of various tissues (e.g. Read More

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http://dx.doi.org/10.15586/jptcp.v26i2.624DOI Listing
July 2019
1 Read

Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria.

J Inherit Metab Dis 2020 Mar 13;43(2):259-268. Epub 2020 Jan 13.

Department of Musculoskeletal Biology I, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.

Alkaptonuria (AKU) is caused by homogentisate 1,2-dioxygenase deficiency that leads to homogentisic acid (HGA) accumulation, ochronosis and severe osteoarthropathy. Recently, nitisinone treatment, which blocks HGA formation, has been effective in AKU patients. However, a consequence of nitisinone is elevated tyrosine that can cause keratopathy. Read More

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http://dx.doi.org/10.1002/jimd.12172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7079096PMC
March 2020
4 Reads
3.365 Impact Factor

Unsafe Deposits: Overlapping Cutaneous Manifestations of Porphyria Cutanea Tarda, Ochronosis, Hemochromatosis, and Argyria.

Skinmed 2019 9;17(3):161-170. Epub 2019 Sep 9.

Department of Dermatology, Rutgers University - New Jersey Medical School, Newark, NJ.

Cutaneous deposition disorders represent an array of conditions resulting from the accumulation of endogenous and exogenous substances within the skin. Many of the deposition diseases resemble each other and can also be confused with disorders not related to deposition. Porphyria cutanea tarda (PCT) results from dysfunction particularly in the fifth enzyme of the heme synthesis pathway, leading to increased skin fragility and bullae among other abnormalities. Read More

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February 2020
3 Reads

Ochronotic arthritis and ochronotic Achilles tendon rupture in alkaptonuria: A 6 years follow-up case report in China.

Medicine (Baltimore) 2019 Aug;98(34):e16837

Department of Orthopedics Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Introduction: Alkaptonuria (AKU) is a rare disease caused by deficiency of homogentisate 1,2-dioxygenase which results in deposition of homogentisic acid (HGA). Ochronotic arthritis, the deposition of excess oxidized HGA in the connective tissues, causes pigmentation and degeneration of the joint tissues ultimately resulting in chronic inflammation and osteoarthritis. The ochronotic arthritis has similar clinical features with osteoarthritis. Read More

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http://dx.doi.org/10.1097/MD.0000000000016837DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6716692PMC
August 2019
3 Reads

[Black knee-ochronotic alterations in alkaptonuria].

Unfallchirurg 2019 Nov;122(11):905-910

Unfall- und Wiederherstellungschirurgie BG Unfallklinik Tübingen, Eberhard Karls Universität Tübingen, Schnarrenbergstraße 95, 72076, Tübingen, Deutschland.

This article presents the case of a 53-year-old male patient born in Sri Lanka, who presented to the outpatient unit with the suspicion of empyema of the knee joint. Within the framework of knee arthroscopy, the diagnosis of ochronosis was made and later confirmed by histopathological biopsy. The alkaptonuria is caused by a homogentisate 1,2-dioxygenase deficiency and leads to an accumulation of homogentisic acid, a degradation product of tyrosine. Read More

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http://dx.doi.org/10.1007/s00113-019-0700-2DOI Listing
November 2019
5 Reads

Evaluating the Efficacy, Safety, and Tolerability of the Combination of Tazarotene, Azelaic Acid, Tacrolimus, and Zinc Oxide for the Treatment of Melasma: A Pilot Study.

J Clin Aesthet Dermatol 2019 May 1;12(5):40-45. Epub 2019 May 1.

Drs. Kirsch (at the time of this study), Hoesly (at the time of this study), and Sluzevich are with the Department of Dermatology at the Mayo Clinic in Jacksonville, Florida.

Melasma is a common hyperpigmentation disorder of the skin. Combination therapy of topical retinoids, corticosteroids, and hydroquinone has been effective in treating melasma, but long-term use is limited by corticosteroid atrophy and exogenous ochronosis. The aim of this pilot study (NCT02730819) was to determine the efficacy, safety, and tolerability of a novel composition (2013-MCN-333) comprising tazarotene 0. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6561715PMC
May 2019
10 Reads

Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease-A review.

J Inherit Metab Dis 2019 09 5;42(5):776-792. Epub 2019 Aug 5.

Musculoskeletal Biology I, Institute of Ageing & Chronic Disease, William Henry Duncan Building, University of Liverpool, Liverpool, UK.

Ochronosis is the process in alkaptonuria (AKU) that causes all the debilitating morbidity. The process involves selective deposition of homogentisic acid (HGA)-derived pigment in tissues altering the properties of these tissues, leading to their failure. Some tissues like cartilage are more easily affected by ochronosis while others such as the liver and brain are unaffected for reasons that are still not understood. Read More

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http://dx.doi.org/10.1002/jimd.12152DOI Listing
September 2019
4 Reads

Glaucoma With Alkaptonuria as a Result of Pigment Accumulation.

J Glaucoma 2019 07;28(7):e112-e114

Recep Tayyip Erdoğan Üniversitesi Zihni Derin Yerleşkesi, Fener Mahallesi, Merkez, Rize, Turkey.

Purpose: To report a case of alkaptonuria (AKU) in a patient with bilateral conjunctival and scleral black colorization who was diagnosed with glaucoma thereafter.

Methods: This is a single case report.

Results: A 67-year-old male patient with bilateral black colorization of conjunctiva and sclera was referred to our hospital. Read More

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http://dx.doi.org/10.1097/IJG.0000000000001208DOI Listing
July 2019
1 Read

Corneal and Scleral Problems Caused by Skin-Lightening Creams.

Cornea 2019 Oct;38(10):1332-1335

Department of Ophthalmology, King's College Hospital NHS Foundation Trust, London, United Kingdom.

Purpose: To present a case series of patients with corneal and scleral changes associated with the use of skin-lightening creams. This is the first report of corneal changes with these widely available creams.

Methods: Three patients of West African origin presented with strikingly similar skin, corneal, and scleral changes and were found to have all been using skin-lightening creams containing hydroquinone. Read More

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http://dx.doi.org/10.1097/ICO.0000000000002027DOI Listing
October 2019
5 Reads

Management of a pseudarthrosis with sagittal malalignment in a patient with ochronotic spondyloarthropathy.

Eur Spine J 2019 Oct 7;28(10):2283-2289. Epub 2019 Jun 7.

Orthopedic and Spinal Surgery Department, Kingdom Hospital, P. O. Box 84400, Riyadh, 11671, Saudi Arabia.

Purpose: Ochronotic spondyloarthropathy is an uncommon disease, and its association to sagittal malalignment in the context of a pseudarthrosis has never been described.

Methods: We present the case of a 56-year-old female, who underwent previously L4L5 laminectomy for central canal stenosis and started later on to complain of progressively severe low back pain with a significant forward imbalance while walking. X-rays showed non-compensated sagittal malalignment due to thoracolumbar kyphosis, CT scan revealed multilevel central intradiscal calcifications with important vacuum disc at L4L5, and MRI showed T1 and T2 hypointensity signal at the same level with bone marrow oedema. Read More

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http://dx.doi.org/10.1007/s00586-019-06020-2DOI Listing
October 2019
12 Reads

Endogenous ochronosis: a dermoscopic view.

Int J Dermatol 2019 Sep 22;58(9):e175-e178. Epub 2019 May 22.

Krishna Institute of Medical Sciences, Karad, Maharashtra, India.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/ijd.14486
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http://dx.doi.org/10.1111/ijd.14486DOI Listing
September 2019
8 Reads

Dermpath & Clinic: Exogenous ochronosis.

Eur J Dermatol 2019 Apr;29(2):239-240

Hospices Civils de Lyon, Dermatology Department, Edouard Herriot Hospital, Claude Bernard Lyon University, Lyon, France.

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http://dx.doi.org/10.1684/ejd.2019.3563DOI Listing
April 2019
7 Reads

A proposal for the term ochronotic keratoderma.

Authors:
Warren R Heymann

J Cutan Pathol 2019 08 9;46(8):623. Epub 2019 May 9.

Cooper Medical School of Rowan University, Marlton, New Jersey.

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http://dx.doi.org/10.1111/cup.13464DOI Listing
August 2019
1 Read

Exogenous ochronosis: the failure of depigmenting creams.

Dermatol Online J 2019 Apr 15;25(4). Epub 2019 Apr 15.

Servicio de Dermatología y Veneorología, Hospital Universitario Doctor Peset, Valencia.

Exogenous ochronosis (EO) is an entity that manifests as black-bluish or grayish-brown cutaneous hyperpigmentation, which is a consequence of the deposition of ochronotic pigment with characteristic banana-like morphology between the collagen fibers of the dermis. Both the clinical presentation and histopathology appearance are superimposable with endogenous ochronosis or alcaptonuria, a hereditary disease in which ochronotic pigment deposition occurs at a multisystemic level. The most frequent cause of EO is the use of facial depigmenting creams containing hydroquinone, a common practice among women with high phototypes. Read More

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April 2019
9 Reads

Endogenous ochronosis: when clinical suspicion prevails over histopathology.

Dermatol Online J 2019 Apr 15;25(4). Epub 2019 Apr 15.

Servicio de Dermatología y Veneorología, Hospital Universitario Doctor Peset, Valencia.

Endogenous ochronosis (EO) or alkaptonuria is an inherited autosomal recessive disease caused by the insufficiency of the enzyme homogentisic acid dioxygenase. This disturbance causes an accumulation and increased renal excretion of homogentisic acid (AHG), which manifests as dark urine when it oxidizes on contact with air. Other clinical manifestations of OE are the result of the deposit of AHG in the form of ochronotic pigment at the level of collagen in the skin and cartilage, where it causes blue-gray cutaneous hyperpigmentation, degenerative arthropathy, valvular disease, and other multisystem effects. Read More

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April 2019
9 Reads

Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage; a potential novel technique for monitoring ochronosis.

Osteoarthritis Cartilage 2019 08 22;27(8):1244-1251. Epub 2019 Apr 22.

Lancaster Medical School, Faculty of Health & Medicine, Lancaster University, Bailrigg, Lancaster, UK. Electronic address:

Objective: Alkaptonuria (AKU) is a rare, inherited disorder of tyrosine metabolism, where patients are unable to breakdown homogentisic acid (HGA), which increases systemically over time. It presents with a clinical triad of features; HGA in urine, ochronosis of collagenous tissues, and the subsequent ochronotic arthritis of these tissues. In recent years the advance in the understanding of the disease and the potential treatment of the disorder looks promising with the data on the efficacy of nitisinone. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10634584193095
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http://dx.doi.org/10.1016/j.joca.2019.04.012DOI Listing
August 2019
21 Reads

Serum Oxidative-Antioxidative Status in Patients With Alkaptonuria.

J Clin Med Res 2019 May 14;11(5):337-344. Epub 2019 Apr 14.

Department of Public Health, Faculty of Medicine, Mutah University, Mutah, Jordan.

Background: Alkaptonuria (AKU) is a rare genetic disease associated with the deposition of melanin-like pigments (ochronosis) in connective tissues. However, data regarding the effect of oxidative stress products on disease pathogenesis are limited. The purpose of this study was to investigate oxidative stress and related factors in patients with alkaptonuria and compare the findings with those in healthy control subjects. Read More

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http://dx.doi.org/10.14740/jocmr3801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469887PMC
May 2019
8 Reads

The Dark Side of the Heart: Cardiovascular Manifestation of Ochronosis.

Ann Thorac Surg 2019 10 26;108(4):e257-e259. Epub 2019 Mar 26.

Department of Cardiac and Transplant Surgery, University Hospital Dubrava, Zagreb, Croatia.

Alkaptonuria is rare genetic disorder of tyrosine metabolism manifesting with signs of tissue pigmentation, dark urine, and ochronotic arthropathies. Commonly undiscovered by late adulthood, alkaptonuria can manifest as cardiac ochronosis with cardiovascular disorders such as valvulopathies, but rarely coronary artery disease. This case report describes 2 patients with aortic stenosis and coronary artery disease in whom alkaptonuria was diagnosed during open heart surgery. Read More

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http://dx.doi.org/10.1016/j.athoracsur.2019.02.042DOI Listing
October 2019
7 Reads
3.849 Impact Factor

Ochronosis Involvement and Extensity With 18F-FDG PET/CT.

Clin Nucl Med 2019 May;44(5):e360-e361

Department of Internal Medicine, and Division of Rheumatology, Dokuz Eylul University, School of Medicine, Izmir, Turkey.

Ochronosis (alkaptonuria) is an autosomal recessive inherited metabolic disease that causes pigmentation by accumulation of homogenous acid in the connective tissue. The most important causes of morbidity are ochronotic arthropathy and cardiovascular involvement seen in fourth and sixth decades, respectively. In this case report, we report the prevalence of F-FDG PET/BT findings in a 48-year-old man with ochronosis who underwent F-FDG PET/BT imaging for the evaluation of mediastinal lymphadenopathy. Read More

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http://dx.doi.org/10.1097/RLU.0000000000002518DOI Listing
May 2019
26 Reads

An Unusual Case of Bilateral Ochronotic Arthropathy of the Hip Successfully Managed by a Staged Bilateral Total Hip Replacement- An Insight with a Surgical Note.

J Orthop Case Rep 2018 Jul-Aug;8(4):11-14

Department of Orthopaedics, Hospital Infanta Leonor, Madrid, Spain.

Introduction: Ochronosis is an inherited metabolic disease that causes a brownish-black pigmentation of the connective tissue. There is currently no specific treatment for ochronosis. The goal of treatment is to control the progress of disease with a multidisciplinary approach and symptomatic relief. Read More

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http://dx.doi.org/10.13107/jocr.2250-0685.1136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343567PMC
January 2019
7 Reads

Knee and Hip Joint Replacement Surgery in a Patient with Ochronotic Arthropathy: Surgical Tips.

Arch Bone Jt Surg 2018 Nov;6(6):577-581

Research performed at Shahid Modarress Hospital, Saveh, Markazi, Iran.

Ochronosis or black joints disorder is a rare autosomal recessive disorder caused by deficiency of homogentisic acid oxidase. Orthopaedic manifestations are common and mostly involve spine and large joints such as knee and hip. Arthropathy is progressive and will eventually leads to arthroplasty. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310191PMC
November 2018
9 Reads

A case of ochronosis successfully treated with the picosecond laser.

J Cosmet Dermatol 2018 Dec 16. Epub 2018 Dec 16.

Clínica Dermatológica Isela Méndez, Ciudad de México, México.

Exogenous ochronosis is a cutaneous condition characterized by blue-black pigmentation resulting as a complication of long-term application of skin-lightening creams containing hydroquinone and other substances such as quinine, phenol and mercury derivatives. We report a case of a 55-year-old woman who developed exogenous ochronosis as a result of prolonged use of topical hydroquinone for 5 years, characterized by greyish hyperpigmented patches on the nose and cheeks. The diagnosis was confirmed histologically. Read More

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http://dx.doi.org/10.1111/jocd.12834DOI Listing
December 2018
19 Reads

Knee Arthroscopy: A Diagnostic and Therapeutic Tool for Management of Ochronotic Arthropathy.

Arthrosc Tech 2018 Nov 1;7(11):e1097-e1101. Epub 2018 Oct 1.

Stetson Powell Orthopedics and Sports Medicine, Burbank, California, U.S.A.

The surgical treatment of ochronotic arthropathy remains unclear. Although there is no absolute cure for ochronotic arthropathy, current management typically begins with conservative treatment. Total joint replacement may eventually be necessary for joints that become severely degenerative. Read More

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http://dx.doi.org/10.1016/j.eats.2018.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261060PMC
November 2018
22 Reads

Black-Colored Ligamentum Flavum Due to Alkaptonuria.

J Neurol Surg A Cent Eur Neurosurg 2019 Mar 26;80(2):131-133. Epub 2018 Nov 26.

Department of Neurosurgery, Adiyaman University, Education and Research Hospital, Adiyaman, Turkey.

Alkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). Defective production of this enzyme results in the accumulation of homogentisic acid (HGA), a tyrosine degradation product, in the bloodstream. Accumulation of HGA and its metabolites in tissues causes ochronosis. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1675784
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http://dx.doi.org/10.1055/s-0038-1675784DOI Listing
March 2019
22 Reads

Alkaptonuria.

Med J Armed Forces India 2018 Oct 25;74(4):394-396. Epub 2017 Jul 25.

Associate Professor, Department of Radiodiagnosis, Armed Forces Medical College, Pune 411040, India.

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http://dx.doi.org/10.1016/j.mjafi.2017.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224644PMC
October 2018
7 Reads

No ochronosis was seen at internal thoracic artery with alkaptonuria.

Asian Cardiovasc Thorac Ann 2019 Jul 11;27(6):486-488. Epub 2018 Nov 11.

Department of Cardiovascular Surgery, School of Medicine, Sapporo Medical University, Hokkaido, Japan.

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http://journals.sagepub.com/doi/10.1177/0218492318813791
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http://dx.doi.org/10.1177/0218492318813791DOI Listing
July 2019
10 Reads