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European Journal of Dermatology : EJD 2007
Topics: Aged; Alkaptonuria; Female; Humans; Ochronosis
PubMed: 17540644
DOI: 10.1684/ejd.2007.0212 -
Nature Reviews. Disease Primers Mar 2024Alkaptonuria is a rare inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase activity. The consequent homogentisic acid (HGA) accumulation... (Review)
Review
Alkaptonuria is a rare inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase activity. The consequent homogentisic acid (HGA) accumulation in body fluids and tissues leads to a multisystemic and highly debilitating disease whose main features are dark urine, ochronosis (HGA-derived pigment in collagen-rich connective tissues), and a painful and severe form of osteoarthropathy. Other clinical manifestations are extremely variable and include kidney and prostate stones, aortic stenosis, bone fractures, and tendon, ligament and/or muscle ruptures. As an autosomal recessive disorder, alkaptonuria affects men and women equally. Debilitating symptoms appear around the third decade of life, but a proper and timely diagnosis is often delayed due to their non-specific nature and a lack of knowledge among physicians. In later stages, patients' quality of life might be seriously compromised and further complicated by comorbidities. Thus, appropriate management of alkaptonuria requires a multidisciplinary approach, and periodic clinical evaluation is advised to monitor disease progression, complications and/or comorbidities, and to enable prompt intervention. Treatment options are patient-tailored and include a combination of medications, physical therapy and surgery. Current basic and clinical research focuses on improving patient management and developing innovative therapies and implementing precision medicine strategies.
Topics: Male; Humans; Female; Alkaptonuria; Quality of Life; Ochronosis; Kidney; Homogentisic Acid
PubMed: 38453957
DOI: 10.1038/s41572-024-00498-x -
Acta Clinica Belgica 1995Ochronosis is a rare disease caused by an inherited lack of homogentisic acid oxidase. Alkaptonuria is the presence of homogentisic acid in urine. Ochronosis is... (Review)
Review
Ochronosis is a rare disease caused by an inherited lack of homogentisic acid oxidase. Alkaptonuria is the presence of homogentisic acid in urine. Ochronosis is characterized by the deposition of a dark pigment in tissues rich in collagen. A wide spectrum of clinical manifestations is described. The most important signs are ochronotic arthropathy, ocular and cutaneous pigmentation, genitourinary tract obstruction by ochronotic calculi and cardiovascular ochronosis, especially calcification and stenosis of the aortic valve. The constellation of these clinical signs should suggest the diagnosis which is confirmed by the detection of homogentisic acid in urine. There is no cure for the disease and treatment is based on symptomatic measures.
Topics: Cardiovascular Diseases; Homogentisic Acid; Humans; Joint Diseases; Ochronosis; Pigmentation Disorders; Urinary Calculi
PubMed: 8571731
DOI: 10.1080/17843286.1995.11718475 -
Clinical Nuclear Medicine May 2019Ochronosis (alkaptonuria) is an autosomal recessive inherited metabolic disease that causes pigmentation by accumulation of homogenous acid in the connective tissue. The...
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.
Topics: Fluorodeoxyglucose F18; Humans; Male; Middle Aged; Ochronosis; Positron Emission Tomography Computed Tomography; Radiopharmaceuticals
PubMed: 30829862
DOI: 10.1097/RLU.0000000000002518 -
BMJ Case Reports Jul 2011Alkaptonuric ochronosis is a heritable disorder of tyrosine metabolism, with various systemic abnormalities related to pigment deposition and degeneration of collagen... (Review)
Review
Alkaptonuric ochronosis is a heritable disorder of tyrosine metabolism, with various systemic abnormalities related to pigment deposition and degeneration of collagen and other tissues, including the heart and aorta. A 65-year-old woman with alkaptonuric ochronosis and a history of four joint replacements required aortic valve replacement for severe aortic stenosis. Operative findings included ochronosis of a partly calcified aortic valve and the aortic intima. The aortic valve was removed at surgery and histologically investigated. Light microscopic examination of the aortic valve revealed intracellular and extracellular deposits of ochronotic pigment and a chronic inflammatory infiltrate. Beside the case representation, the disease history, aetiology, pathogenesis, clinical presentation and treatment of aortic valve ochronosis are reviewed.
Topics: Aged; Alkaptonuria; Aortic Valve; Diagnosis, Differential; Female; Heart Valve Diseases; Humans; Ochronosis
PubMed: 22689837
DOI: 10.1136/bcr.04.2011.4119 -
BMC Ophthalmology Jan 2014Ochronosis/Alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to... (Review)
Review
BACKGROUND
Ochronosis/Alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to a black pigmentation of the affected tissues. It is autosomal-recessive inherited in men with a frequency of 1-9/1,000,000. While it is clear that pigment deposits lead to joint destruction, renal stone formation and cardiac valvulopathy respectively, the significance of ocular findings is still unclear. We therefore aim to evaluate the frequency and clinical significance of ocular findings in ochronosis and discuss possible therapeutic options.
METHODS
Systematic review of literature via Medline and Web of Science. Only case reports in English, German, French, Spanish or Italian documenting detailed ophthalmologic examination were included.
RESULTS
Our search revealed 36 case reports including 40 patients. Average age at the onset of ocular signs was 40.6 years. The most frequent sign was symmetric brown sclera pigmentation present in 82.5 percent of the patients. "Oil-drops", brown pigment spots in the limbus are generally considered pathognomonic but were a little less frequent (75 percent). Vermiform pigment deposits at the level of the conjunctiva or increased conjunctival vessel diameter is also frequent. We found an increased incidence of central vein occlusion and elevated intraocular pressure going along with chamber angle hyperpigmentation. Another condition observed twice is rapid progressive astigmatism attributable to corneoscleral pigment accumulation.
CONCLUSION
Our observations suggest that ocular findings are of double relevance. First, characteristic ocular findings can anticipate the time of diagnosis and second, ocular findings may complicate to various conditions putting sight at risk. Opthalmologists and general physicians should be aware of both. Therapeutic options include protein restriction, administration of high dose vitamin C or nitisonone. Evidence for all of them is limited.
Topics: Conjunctival Diseases; Humans; Male; Ochronosis; Scleral Diseases
PubMed: 24479547
DOI: 10.1186/1471-2415-14-12 -
American Journal of Clinical Dermatology 2001Exogenous ochronosis is clinically and histologically similar to its endogenous counterpart; however, it exhibits no systemic effects and is not an inherited disorder.... (Comparative Study)
Comparative Study Review
Exogenous ochronosis is clinically and histologically similar to its endogenous counterpart; however, it exhibits no systemic effects and is not an inherited disorder. It is characterized by an asymptomatic hyperpigmentation of the face, sides and back of the neck, back, and extensor surfaces of the extremities. The associated ochronotic discoloration most commonly results from use of products containing hydroquinone. It also occurs following use of antimalarials and products containing resorcinol, phenol, mercury or picric acid. The etiology of hydroquinone-induced hyperpigmentation in exogenous ochronosis remains speculative. The majority of patients with this condition are Black, but it has been reported to occur in Hispanics and Caucasians. Exogenous ochronosis is prevalent among South African Blacks, but is believed relatively uncommon within the US. The reasons for this phenomenon are not clear, but it could be a result of the use of skin care products containing resorcinol in combination with hydroquinone or the use of hydroquinone in a hydroalcoholic lotion. Treatment of this condition is difficult. The offending agent must be avoided, but improvement occurs only slowly. A number of topical agents have been studied as have dermabrasion and the use of lasers. Controlled studies in larger numbers of patients are require to determine the true efficacy of newer treatments.
Topics: Adrenal Cortex Hormones; Adult; Aged; Anti-Bacterial Agents; Caustics; Cosmetics; Cryotherapy; Dermabrasion; Dermatologic Agents; Female; Humans; Hydroquinones; Incidence; Keratolytic Agents; Laser Therapy; Middle Aged; Ochronosis; Resorcinols; Skin Care; South Africa; Sunscreening Agents; Tetracycline; Time Factors; Tretinoin; Trichloroacetic Acid
PubMed: 11705248
DOI: 10.2165/00128071-200102040-00002 -
Rivista Critica Di Clinica Medica 1968
Review
Topics: Alkaptonuria; Animals; Diagnosis, Differential; Humans; Ochronosis
PubMed: 4915550
DOI: No ID Found -
Ophthalmic Plastic and Reconstructive...Exogenous ochronosis refers to accumulation of homogentisic acid metabolites in tissues, manifesting as pigmentation of affected tissues. Phenolic compounds are most...
Exogenous ochronosis refers to accumulation of homogentisic acid metabolites in tissues, manifesting as pigmentation of affected tissues. Phenolic compounds are most commonly implicated, including hydroquinone, quinine, phenol, resorcinol, mercury, and picric acid. The affected connective tissues exhibit brownish discoloration when heavily pigmented and the histopathological appearance is characteristic with "banana-shaped" ochre-colored pigment deposits. Herein, the authors describe a rare case of exogenous ochronosis involving the conjunctiva, sclera and skin, as a result of chronic use of Teavigo (94% epigallocatechin gallate), a polyphenol compound with postulated antioxidant and antiapoptotic activity.
Topics: Humans; Ochronosis; Alkaptonuria; Skin; Pigmentation Disorders
PubMed: 37010051
DOI: 10.1097/IOP.0000000000002395 -
European Journal of Dermatology : EJD Apr 2019
Topics: Administration, Topical; Alkaptonuria; Biopsy, Needle; Combined Modality Therapy; Dermatologic Agents; Facial Dermatoses; Female; Humans; Immunohistochemistry; Laser Therapy; Middle Aged; Ochronosis; Rare Diseases; Treatment Outcome
PubMed: 31106765
DOI: 10.1684/ejd.2019.3563