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Surgical Technology International Oct 2016Alkaptonuria is a rare hereditary metabolic disorder that leads to the accumulation of homogentisic acid accumulation and weakens the collagen, creating fissuring and...
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. There have been a number of case reports published on patients who had TKA and were found to have a diagnosis of ochronosis. We believe that surgery for symptomatic patients who are surgical candidates for TKA should not be delayed for concerns of complications. However, future studies should compare outcomes to those who undergo TKA without ochronotic arthropathy.
Topics: Alkaptonuria; Arthroplasty, Replacement, Knee; Humans; Knee Joint; Ochronosis; Osteoarthritis
PubMed: 27466876
DOI: No ID Found -
Journal of the American Academy of... Jun 1983
Topics: Cosmetics; Dermatologic Agents; Diagnosis, Differential; Female; Humans; Hydroquinones; Microscopy, Electron; Middle Aged; Ochronosis; Skin
PubMed: 6863651
DOI: 10.1016/s0190-9622(83)80022-x -
Journal of the American Optometric... Nov 1991Alkaptonuria is an extremely rare, autosomal recessive disorder in which the metabolic enzyme homogentisic acid oxidase is deficient. A common sequelae is the subsequent...
Alkaptonuria is an extremely rare, autosomal recessive disorder in which the metabolic enzyme homogentisic acid oxidase is deficient. A common sequelae is the subsequent accumulation of homogentisic acid in collagenous tissues, such as the sclera, nose and ear lobes. The blue-black pigmentation found in patients with alkaptonuria is called ochronosis. Another ocular sign includes amber-colored oil globulation within Bowmans membrane of the cornea.
Topics: Aged; Alkaptonuria; Humans; Male; Ochronosis; Scleral Diseases; Visual Acuity
PubMed: 1813514
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 -
Indian Journal of Dermatology,... 2015
Topics: Facial Dermatoses; Humans; Male; Middle Aged; Ochronosis
PubMed: 26515848
DOI: 10.4103/0378-6323.168349 -
Journal of Cosmetic Dermatology Oct 2022Hyperpigmentation is the most common complaint in the age group 40-45 years, seeking consultation for skin disorders. Hydroquinone is a commonly used depigmenting agent... (Review)
Review
Hyperpigmentation is the most common complaint in the age group 40-45 years, seeking consultation for skin disorders. Hydroquinone is a commonly used depigmenting agent in clinical practice for treating hyperpigmentation. Prolonged use of hydroquinone has been associated with cancer risk and exogenous ochronosis. The CARES (The Coronavirus Aid, Relief, and Economic Security Act) Act of 2020 has instituted significant changes to hydroquinone containing OTC (over the counter) products, and consequently, many hydroquinone-based OTC products had to be withdrawn from the market. Henceforth, products containing hydroquinone would need US Food and Drug Administration approval via new drug application pathways for commercialization. Alternative treatment options to hydroquinone in clinical practice are reviewed in this paper with regard to their safety and efficacy vis a vis hydroquinone. Also, new potential treatment options such as thiamidol, Polypodium leucotomos, and glutathione are discussed. The review shows that these alternative depigmenting agents can be rationally combined to achieve desired treatment goals in the management of hyperpigmentation.
Topics: Humans; Adult; Middle Aged; Hydroquinones; Hyperpigmentation; Ochronosis
PubMed: 35020267
DOI: 10.1111/jocd.14746 -
Journal of the American Academy of... Jan 1983
Topics: Humans; Hydroquinones; Ochronosis
PubMed: 6826796
DOI: 10.1016/s0190-9622(83)80287-4 -
Medicina Clinica Apr 2021
Topics: Alkaptonuria; Humans; Ochronosis
PubMed: 32680680
DOI: 10.1016/j.medcli.2020.04.038 -
La Revue Du Praticien Apr 1974
Topics: Alkaptonuria; Female; Humans; Male; Ochronosis
PubMed: 4408529
DOI: No ID Found -
Journal of Cardiac Surgery 2006Valvular heart disease has numerous etiologies. These range from congenital malformations to infectious and degenerative diseases. Clinically, these result in...
Valvular heart disease has numerous etiologies. These range from congenital malformations to infectious and degenerative diseases. Clinically, these result in significant problems, the management of which can necessitate valve replacement with prosthetic heart valves. A rare cause is the deposition of foreign material in the valvular tissues, and these include inborn errors of metabolism of the essential amino acids. Alkaptonuria, an autosomal recessive trait, can result in the accumulation of excess homogentisic acid. This can manifest as pigmentation in the skin and other tissues, including heart valves. Accumulation of this pigment can lead to an inflammatory reaction and to progressive valve dysfunction.
Topics: Aged; Aortic Valve; Aortic Valve Stenosis; Bioprosthesis; Diagnosis, Differential; Female; Heart Valve Prosthesis Implantation; Humans; Ochronosis
PubMed: 16492283
DOI: 10.1111/j.1540-8191.2006.00207.x