922 results match your criteria Ochronosis
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
J Neurol Surg A Cent Eur Neurosurg 2018 Nov 26. 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
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.
Asian Cardiovasc Thorac Ann 2018 Nov 11:218492318813791. Epub 2018 Nov 11.
Department of Cardiovascular Surgery, School of Medicine, Sapporo Medical University, Hokkaido, Japan.
Alkaptonuria is a rare disorder of amino acid metabolism that causes premature large joint spine arthropathy and cardiac disease. We describe a case of aortic stenosis and coronary artery disease associated with ochronosis in a 76-year-old man who underwent aortic valve replacement and coronary artery bypass grafting. Although the ochronosis was extensive, no ochronosis was seen in the internal thoracic artery which used for coronary artery bypass grafting. Read More
Skeletal Radiol 2018 Nov 8. Epub 2018 Nov 8.
Department of Radiology, Sree Balaji Medical College and Hospital, 7, Works Road, Chromepet, Chennai, Tamil Nadu, 600044, India.
Alkaptonuria is a rare inborn metabolic disorder due to a mutation in the homogentisic acid oxidase enzyme (HGO) gene on chromosome 3q. As HGO is deficient in alkaptonuria patients, there is an accumulation of homogentisic acid in the blood and urine. Homogentisic acid gets deposited in the soft tissues, tendons, cartilages, large joints and intervertebral discs. Read More
J Cell Physiol 2018 Oct 20. Epub 2018 Oct 20.
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy.
Alkaptonuria (AKU) is a disease caused by a deficient homogentisate 1,2-dioxygenase activity leading to systemic accumulation of homogentisic acid (HGA), that forms a melanin-like polymer that progressively deposits onto connective tissues causing a pigmentation called "ochronosis" and tissue degeneration. The effects of AKU and ochronotic pigment on the biomechanical properties of articular cartilage need further investigation. To this aim, AKU cartilage was studied using thermal (thermogravimetry and differential scanning calorimetry) and rheological analysis. Read More
J Cutan Pathol 2018 Oct 7. Epub 2018 Oct 7.
Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida.
Collagenous and elastotic marginal plaques of the hand (CEMPH) is a rare, chronic keratoderma characterized by hyperkeratotic linear plaques located along the radial and ulnar aspects of the hands bilaterally. As an isolated finding, CEMPH occurs secondarily to chronic trauma and photodamage. Herein, CEMPH is described as a manifestation of alkaptonuria (AKU). Read More
Data Brief 2018 Oct 12;20:1620-1628. Epub 2018 Sep 12.
Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK.
Alkaptonuria is a rare genetic disorder characterized by a high level of circulating (and urine) homogentisic acid (HGA), which contributes to ochronosis when it is deposited in connective tissue as a pigmented polymer. In an observational study carried out by National AKU Centre (NAC) in Liverpool, a total of thirty-nine AKU patients attended yearly visits in varying numbers. At each visit a mixture of clinical, joint and spinal assessments were carried out and the results calculated to yield an AKUSSI (Alkaptonuria Severity Score Index), see "Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre" (Ranganath at el. Read More
J Forensic Sci 2018 Sep 19. Epub 2018 Sep 19.
Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA.
Ochronosis is the blue-gray discoloration of collagen-containing tissues due to homogentisic acid (HGA) deposition, secondary to endogenous alkaptonuria or exogenous enzyme inhibition. In renal disease, accumulation of HGA in serum can cause methemoglobinemia. A 60-year-old woman with renal disease and anemia presented with 3 days of weakness and months of gray skin discoloration. Read More
Med J Armed Forces India 2018 Jul 18;74(3):300-303. Epub 2017 Aug 18.
Commanding Officer, Armed Forces Transfusion Centre, Delhi Cantt, India.
A 60-year-old female presented with a 20-year history of progressive dark bluish discoloration of skin and passage of dark colored urine, painful arthritis and a recent history of invasive ductal carcinoma of right breast. Skin biopsy revealed hyaline material which was Periodic-Acid-Schiff stain positive and Congo-red stain negative, urine analysis revealed dark urine with presence reducing substance and radio-imaging showed intervertebral ossification and joint ankyloses. The patient was managed symptomatically with physiotherapy and acetaminophen on as required basis. Read More
Eur J Rheumatol 2018 Sep 22;5(3):206-208. Epub 2018 Jun 22.
Division of Rheumatology, Department of Internal Medicine, Health Sciences University Gülhane School of Medicine, Ankara, Turkey.
Exogenous ochronosis is characterized by hyperpigmented skin lesions that arise in association with local suppression of homogentisic acid oxidase enzyme. Although it generally develops in association with topical application of chemical agents, it can occasionally develop in association with antimalarial drugs. Here we present the case of a patient with rheumatoid arthritis who developed hyperpigmentation on the face and neck regions during hydroxychloroquine treatment. Read More
Mol Genet Metab 2018 Sep 24;125(1-2):127-134. Epub 2018 Jul 24.
Department of Musculoskeletal Biology, University of Liverpool, L69 7ZX, UK.
Question: Does Nitisinone prevent the clinical progression of the Alkaptonuria?
Findings: In this observational study on 39 patients, 2 mg of daily nitisinone inhibited ochronosis and significantly slowed the progression of AKU over a three-year period.
Meaning: Nitisinone is a beneficial therapy in Alkaptonuria.
Background: Nitisinone decreases homogentisic acid (HGA), but has not been shown to modify progression of Alkaptonuria (AKU). Read More
JBJS Case Connect 2018 Jul-Sep;8(3):e55
Rebound Orthopedics & Neurosurgery, Vancouver, Washington.
Case: When a 31-year-old man with no prior medical history underwent diagnostic arthroscopy for posttraumatic knee pain, ochronotic arthropathy was identified. Subsequent blood tests led to the diagnosis of alkaptonuria. After a discussion regarding his future military career and prognosis, he elected to proceed with osteochondral allograft transplantation surgery (OATS). Read More
Neurol India 2018 Jul-Aug;66(4):1178-1181
Department of Neurosurgery, Care Hospitals, Visakhapatnam, Andhra Pradesh, India.
J Thorac Dis 2018 May;10(5):E332-E334
Department of Cardiothoracic Surgery, John Hunter Hospital, New Lambton Heights, New South Wales, Australia.
Ochronosis is the bluish-black discolouration of connective tissue, including heart valves, joints, kidney and the skin. It is due to the deposition of homogentisic acid (HGA) commonly found in alkaptonuria. Ochronosis in the aortic valve is a rare occurrence and there is limited data available on the most appropriate choice of valve prosthesis in these patients. Read More
G Ital Dermatol Venereol 2018 Jun 29. Epub 2018 Jun 29.
University of Medicine and Pharmacy "Carol Davila", Bucharest, Romania.
Dtsch Arztebl Int 2018 Apr;115(16):286
J Med Biogr 2018 Nov 4;26(4):234-242. Epub 2018 May 4.
London Health Sciences Centre and Western University, Canada.
At the turn of the 20th century, Dr Edwin Seaborn was starting his surgical and academic career at Western University in Ontario. When war was declared in 1914, Seaborn prevailed upon the university's president to offer the Canadian government a fully staffed hospital for deployment overseas. Initially declined by the War Office in Ottawa, the university's offer was later accepted after mounting casualties stretched the capacity of the Canadian Army Medical Corps, and Seaborn was granted command of the new No. Read More
JIMD Rep 2018 14;41:53-62. Epub 2018 Apr 14.
Royal Liverpool University Hospital, Liverpool, UK.
Background: Alkaptonuria (AKU) is a rare disorder with no licensed treatment; nitisinone may reduce symptoms and progression. The All Alkaptonuria Severity Score Index (AKUSSI) measures disease severity in clinical, joint and spine domains, with 57 subcomponent feature scores. Our primary aim was to assess tools for validating scores such as the AKUSSI by detecting relationships between features both before and during nitisinone treatment. Read More
Forensic Sci Med Pathol 2018 06 23;14(2):236-240. Epub 2018 Mar 23.
Forensic Science SA, GPO Box 2790, Adelaide, SA, 5001, Australia.
A 61-year-old female died in hospital with multiple organ failure 4 weeks following presentation with acute kidney injury, hemolytic anemia and methemoglobinemia. At autopsy, brown to black discoloration of cartilages was observed. Histology revealed brown pigmentation of the hyaline cartilage, with focal full-thickness erosion of the articular hyaline cartilage, characteristic of alkaptonuria (ochronosis). Read More
Ann Thorac Surg 2018 Jul 1;106(1):e19-e20. Epub 2018 Mar 1.
Division of Cardiac Surgery, London Health Sciences Centre, Western University, London, Ontario, Canada. Electronic address:
Cardiac ochronosis is a rare complication of alkaptonuria, a disorder of tyrosine metabolism characterized by a triad of dark urine, pigmentation of tissues, and ochronotic arthropathies. When present, cardiac ochronosis generally affects the aortic valve, resulting in aortic stenosis. More rarely, it may affect the mitral valve and the coronary arteries. Read More
J Cardiothorac Vasc Anesth 2018 10 29;32(5):2286-2288. Epub 2017 Dec 29.
Department of Anesthesiology, Kurashiki Central Hospital, Kurashiki, Okayama, Japan.
J Foot Ankle Surg 2018 Jan - Feb;57(1):179-183. Epub 2017 Nov 4.
Specialist in Pathology, Department of Pathology, Ankara Research and Training Hospital, Ankara, Turkey.
Alkaptonuria is a hereditary disorder of phenylalanine and tyrosine, with an incidence of approximately 1/200,000 to 1/1,000,000. Ochronosis is the accumulation of homogentisic acid and its metabolites in connective tissues such as the tendons, cartilage, and skin. In the present case study, a 50-year-old male presented with a nontraumatic calcaneal avulsion without a previous diagnosis of ochronosis. Read More
Eur J Cardiothorac Surg 2018 04;53(4):887
Department of Cardiovascular, Maria Pia Hospital, GVM Care & Research, Torino, Italy.
Rheumatology (Oxford) 2017 Oct 24. Epub 2017 Oct 24.
Department of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
J Clin Orthop Trauma 2017 Aug 5;8(Suppl 1):S80-S83. Epub 2017 Jan 5.
Orthopaedic Department, Sir Ganga Ram Hospital, Room no 1218-A, Rajendra Nagar, New Delhi, India.
Alkaptonuria is a rare inherited metabolic disorder, caused by the deficiency of homogentisate 1,2 dioxygenase enzyme. The three major features of alkaptonuria are the presence of homogentisic acid in urine, ochronosis (bluish-black pigmentation in connective tissue) and arthritis of the spine and large joints. We present a 48 years old female presented with pain, restriction of movements of right shoulder. Read More
Comput Biol Chem 2017 Oct 25;70:133-141. Epub 2017 Aug 25.
Department of Biotechnology, Chemistry and Pharmacy, University of Siena, via Aldo Moro 2, 53100 Siena, Italy.
Alkaptonuria (AKU) is an inborn error of metabolism where mutation of homogentisate 1,2-dioxygenase (HGD) gene leads to a deleterious or misfolded product with subsequent loss of enzymatic degradation of homogentisic acid (HGA) whose accumulation in tissues causes ochronosis and degeneration. There is no licensed therapy for AKU. Many missense mutations have been individuated as responsible for quaternary structure disruption of the native hexameric HGD. Read More
Br J Dermatol 2017 08;177(2):e28
First Department of Dermatology, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Semin Cardiothorac Vasc Anesth 2017 Dec 14;21(4):364-366. Epub 2017 Jul 14.
1 Texas Heart Institute, Houston, TX, USA.
Alkaptonuric ochronosis is a rare cause of aortic valve stenosis. We report the case of a 61-year-old female patient with alkaptonuria who presented to our institute with the clinical picture of severe aortic valve stenosis, which was confirmed by transthoracic echocardiography. On aortotomy, she was noted to have an impressive black discoloration of ascending aorta and the aortic root complex involving the aortic valve leaflets. Read More
Indian J Ophthalmol 2017 Jun;65(6):518-521
Department of Ophthalmology, Apollo Institute of Medical Sciences and Research, Jubilee Hills, Hyderabad, Telangana, India.
Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. Read More
Rev Bras Anestesiol 2018 May - Jun;68(3):307-310. Epub 2017 May 20.
Konya Education and Research Hospital, Department of Anesthesiology and Reanimation, Konya, Turkey. Electronic address:
The current case report describes two cases of alkaptonuric ochronosis for anesthetic management. Alkaptonuria is a rare genetic orphan disease of tyrosine metabolism characterized by an accumulation of homogentisic acid in cartilage and connective tissues. Patients present most commonly for orthopedic joint surgery due to progressive arthropathy that can be misdiagnosed many a times. Read More
Pan Afr Med J 2017;26:81. Epub 2017 Feb 21.
Department of Internal Medicine, Sahloul Hospital, Faculty of Medicine of Sousse, Sousse, Tunisia.
BMC Med Inform Decis Mak 2017 Apr 14;17(1):42. Epub 2017 Apr 14.
Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.
Background: Alkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902. It causes urine to turn black upon exposure to air and also leads to ochronosis as well as early osteoarthritis. Our objective is the implementation of a Precision Medicine (PM) approach to AKU. Read More
Calcif Tissue Int 2017 07 7;101(1):50-64. Epub 2017 Mar 7.
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Via Aldo Moro 2, 53100, Siena, Italy.
Alkaptonuria (AKU) is a hereditary disorder that results from altered structure and function of homogentisate 1,2 dioxygenase (HGD). This enzyme, predominantly produced by liver and kidney, is responsible for the breakdown of homogentisic acid (HGA), an intermediate in the tyrosine degradation pathway. A deficient HGD activity causes HGA levels to rise systemically. Read More
Am J Phys Med Rehabil 2017 Nov;96(11):e206-e209
From the Atatürk Educational and Research Hospital, Physical Medicine and Rehabilitation Clinic (S. Bozkurt); and Physical Medicine and Rehabilitation Department (LA, FGU, NS, SA) and Pathology Department (S. Balci), Yildirim Beyazit University, Ankara, Turkey.
Ochronosis is a late developing complication of alkaptonuria, a black brownish pigment in the fibrous and cartilaginous tissues. Although most previous studies reported alkaptonuria and back pain due to ochronosis, thoracic myelopathy is an extremely rare complication. In this report, a paraparetic patient who has ochronotic spondiloarthropathy with the presence of HLA B27 antigen is described. Read More
Biochim Biophys Acta Gen Subj 2017 May 9;1861(5 Pt A):1000-1008. Epub 2017 Feb 9.
Dipartimento di Biotecnologie Chimica e Farmacia, Università degli Studi di Siena, via Aldo Moro 2, 53100 Siena, Italy. Electronic address:
Background: Alkaptonuria (AKU) is an ultra-rare disease associated to the lack of an enzyme involved in tyrosine catabolism. This deficiency results in the accumulation of homogentisic acid (HGA) in the form of ochronotic pigment in joint cartilage, leading to a severe arthropathy. Secondary amyloidosis has been also unequivocally assessed as a comorbidity of AKU arthropathy. Read More
Actas Dermosifiliogr 2017 05 23;108(4):381-383. Epub 2017 Jan 23.
Sección de Micología, Hospital General «Dr. Manuel Gea González», Ciudad de México, México. Electronic address:
Rheumatology (Oxford) 2017 01 7;56(1):156-164. Epub 2016 Oct 7.
Department of Medicine, Duke University School of Medicine, Duke Molecular Physiology Institute.
Objective: Alkaptonuria (AKU) is a rare autosomal recessive disease resulting from a single enzyme deficiency in tyrosine metabolism. As a result, homogentisic acid cannot be metabolized, causing systemic increases. Over time, homogentisic acid polymerizes and deposits in collagenous tissues, leading to ochronosis. Read More
J Cell Physiol 2017 Nov 29;232(11):3103-3111. Epub 2017 Mar 29.
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Siena, Italy.
Alkaptonuria (AKU) is an ultra-rare genetic disease, in which the accumulation of a toxic metabolite, homogentisic acid (HGA) leads to the systemic development of ochronotic aggregates. These aggregates cause severe complications mainly at the level of joints with extensive degradation of the articular cartilage. Primary cilia have been demonstrated to play an essential role in development and the maintenance of articular cartilage homeostasis, through their involvement in mechanosignaling and Hedgehog signaling pathways. Read More
Clin Case Rep 2016 Dec 5;4(12):1201-1202. Epub 2016 Oct 5.
Department of Paediatric Cardiology Onassis Cardiac Surgery Centre Athens Greece.
A 63-year-old man bearing most signs and symptoms (facial pigmentation, degenerative arthritis, and dark urine) pertinent to his known history of alkaptonuria underwent aortic valve replacement for critical aortic stenosis. Although rare, aortic stenosis is the most common cardiac manifestation of alkaptonuric ochronosis. Read More
Int J Dermatol 2017 Jan;56(1):32-39
Department of Pathology, University of Ghana School of Biomedical and Allied Health Sciences, Accra, Ghana.
Background: The practice of skin lightening has been reported from North America, Europe, Asia, and Africa. In literature, some prevalence rates exceed 50%, and both sexes are involved. Common agents used include hydroquinone, mercury, corticosteroids, and caustic agents. Read More
Biochim Biophys Acta Gen Subj 2017 Feb 16;1861(2):135-146. Epub 2016 Nov 16.
Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, 53100, Siena, Italy. Electronic address:
Background: Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism characterized by homogentisic acid (HGA) accumulation due to a deficient activity of the homogentisate 1.2-dioxygenase (HGD) enzyme. This leads to the production of dark pigments that are deposited onto connective tissues, a condition named 'ochronosis' and whose mechanisms are not completely clear. Read More
Dermatol Ther (Heidelb) 2016 Dec 11;6(4):453-459. Epub 2016 Nov 11.
Department of Population Health Science and Policy, Center for Biostatistics, Institute for Translational Epidemiology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Skin-bleaching practices, such as using skin creams and soaps to achieve a lighter skin tone, are common throughout the world and are triggered by cosmetic reasons that oftentimes have deep historical, economic, sociocultural, and psychosocial roots. Exposure to chemicals in the bleaching products, notably, mercury (Hg), hydroquinone, and steroids, has been associated with a variety of adverse health effects, such as Hg poisoning and exogenous ochronosis. In New York City (NYC), skin care product use has been identified as an important route of Hg exposure, especially among Caribbean-born blacks and Dominicans. Read More
Acta Orthop Traumatol Turc 2016 Oct 3;50(5):584-586. Epub 2016 Nov 3.
Bozok University Faculty of Medicine, Department of Orthopaedics and Traumatology, Turkey.
Alkaptonuria is a rare metabolic disease caused by a partial or total deficiency of homogentisic acid oxidase, which results in excess homogentisic acid (HGA) levels. Homogentisic acid and its oxidation products can accumulate in hyaline cartilage, tendons, and ligaments. A 55-year-old male was admitted complaining of worsening chronic pain in his left knee. Read More
Urology 2017 Feb 2;100:e3-e4. Epub 2016 Nov 2.
Department of Urology, Christian Medical College and Hospital, Vellore, Tamilnadu, India.
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. Read More
Surg Technol Int 2016 Oct;29:261-264
Department of Orthopaedics, Seton Hall University, School of Health, and Medical Sciences, South Orange, NJ.
Alkaptonuria is a rare hereditary metabolic disorder that leads to the accumulation of homogentisic acid accumulation and weakens the collagen, creating fissuring and articular cartilage degeneration. Therefore, we are reporting a multicenter case series of three patients (four arthroplasties) who presented with signs and symptoms of ochronotic arthropathy-and eventually underwent total knee arthroplasty (TKA)-and provide a review of the current literature on total joint arthroplasty in ochronotic osteoarthritis. Each patient achieved excellent Knee Society Scores (KSS) after at least a five-year follow-up-regardless of receiving cemented or cementless prostheses-and suffered no complications. Read More
Pan Afr Med J 2016 23;24:159. Epub 2016 Jun 23.
Centre de Dermatologie du CHU de Treichville d'Abidjan, Côte d'Ivoire.
Introduction: Cutaneous depigmentation for cosmeticis purposes is a widespread practice among black African women. It has many complications that have been well documented for decades. However, the reasons of practitioners are not well known. Read More
Hautarzt 2016 Nov;67(11):922-924
Klinik für Dermatologie, Venerologie und Allergologie, Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland.
J Neurosurg Spine 2017 Feb 14;26(2):220-228. Epub 2016 Oct 14.
Birmingham Medical School, Birmingham, United Kingdom.
In this study the authors report the first example of spinal pseudarthrosis in a patient with ochronosis, and they describe the application of posterior-only 360° surgery as an alternative approach to combined anterior-posterior surgery in the management of pseudarthrosis of an ankylosed spine, regardless of its etiology. Spinal involvement in ochronosis produces loss of flexibility and ankylosis of thoracic and lumbar segments. Pseudarthrosis is a serious complication of the diseases that present with ankylosis of the spine. Read More
J Assoc Physicians India 2016 Apr;64(4):79-80
Assistant Professor, Department of Surgery, Mahatma Gandhi Medical College, Jaipur, Rajasthan.
Alkaptonuria is an autosomal recessive metabolic disorder characterized by joints and spine involvement, ochronosis and presence of homogentisic acid in urine and its deposition in cartilage, intervertebral disc and other connective tissues, leading to disabling arthritis in elderly individual. Read More