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Der Pathologe Sep 1988
Review
Topics: Aged; Conjunctiva; Cornea; Eye Diseases; Female; Humans; Ochronosis; Sclera
PubMed: 3050966
DOI: No ID Found -
Revista Portuguesa de Cirurgia... 2020Alkaptonuria is an autosomal recessive inborn error of metabolism of the aromatic amino acids. Deficiency of the homogentisate1,2-dioxygenase leads to an increased blood...
Alkaptonuria is an autosomal recessive inborn error of metabolism of the aromatic amino acids. Deficiency of the homogentisate1,2-dioxygenase leads to an increased blood and urinary concentration of homogentisc acid resulting in a slow accumulation of its oxidation products in the connective tissues (ochronosis). The most common clinical manifestation of ochronosis is arthropathy whereas cardiac involvement is very infrequent. We report the case of a patient with ochronotic involvement of the aortic valve who underwent a valve replacement. Some aspects of pathogenesis, and treatment are discussed.
Topics: Alkaptonuria; Aortic Valve; Heart Valve Prosthesis; Humans; Ochronosis
PubMed: 32707620
DOI: No ID Found -
International Journal of Dermatology Sep 2019
Topics: Adult; Alkaptonuria; Dermoscopy; Female; Humans; Nails; Ochronosis; Skin
PubMed: 31115901
DOI: 10.1111/ijd.14486 -
Indian Journal of Pathology &... 2011
Review
Topics: Adult; Ear; Female; Femur; Hand; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Ochronosis; Radiography; Spine
PubMed: 21934244
DOI: 10.4103/0377-4929.85122 -
Dermatology Online Journal Apr 2019Exogenous ochronosis (EO) is an entity that manifests as black-bluish or grayish-brown cutaneous hyperpigmentation, which is a consequence of the deposition of...
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. We present a woman who developed EO on the face, upper chest, and back after prolonged use of a depigmenting cream containing hydroquinone.
Topics: Antioxidants; Back; Facial Dermatoses; Female; Humans; Hydroquinones; Hyperpigmentation; Middle Aged; Ochronosis; Skin Lightening Preparations; Thorax
PubMed: 31046915
DOI: No ID Found -
International Journal of Dermatology Mar 2011Endogenous ochronosis (EO) is a rare autosomal recessive disorder due to accumulation of oxidized and polymerized forms of homogentisic acid (HGA) in connective tissues,... (Review)
Review
BACKGROUND
Endogenous ochronosis (EO) is a rare autosomal recessive disorder due to accumulation of oxidized and polymerized forms of homogentisic acid (HGA) in connective tissues, giving them a deep dark blue pigmentation.
AIM
Through a new Tunisian case of EO and a review of the literature, we aimed to define the epidemioclinical features of EO, its diagnostic criteria, and evolution.
METHODS
Three hundred and forty patients were enrolled through 54 articles and four abstracts.
CASE REPORT
A 35-year-old woman, born in consanguineous parents, presented with blue-grey patches of fingernails, first interdigital spaces, and ears with brown conjunctival pigmentation. Urine specimen turned dark on standing overnight. The diagnosis of EO was confirmed by urinary high levels of HGA. Investigations revealed radiologic signs of ochronotic arthropathy.
REVIEW OF THE LITERATURE
EO is ubiquitary. Its prevalence was estimated at almost 6.5 cases/year. The mean age at diagnosis was 55.9 years (M/F: 1.85). Onset symptoms mainly consisted in cutaneous signs. Ochronotic arthropathy was the most frequently reported manifestation. Treatment was mainly symptomatic.
DISCUSSION
EO is often revealed in adulthood mainly after the fourth decade. Urinary darkening is the first sign of the disease but is rarely reported as an onset sign. Skin signs are the alerting features. Ochronotic arthropathy is insidious but may be debilitating. No specific medical treatment of EO is available.
CONCLUSION
Cutaneous manifestations are the hallmarks of OE. As vital organ involvement has been reported, close monitoring and continuous surveillance is warranted.
Topics: Adult; Connective Tissue; Female; Global Health; Humans; Ochronosis; Prevalence; Skin
PubMed: 21342157
DOI: 10.1111/j.1365-4632.2010.04668.x -
The American Journal of Dermatopathology Aug 2020Exogenous ochronosis (EO) is a deposition disease associated with application of hydroquinone-containing preparations. Characteristic ochronotic bodies (OBs) arise from... (Observational Study)
Observational Study
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.
OBJECTIVE
To evaluate elastic tissue pathology in EO, specifically as it relates a precursor role in ochronotic body formation.
METHODS
In this retrospective observational study, a literature review using PubMed/MEDLINE database was conducted to ascertain the most commonly ascribed precursor connective tissue. Eleven histopathologic cases of EO were identified. Patient demographics and clinical characteristics were recorded. Slides were reviewed for the presence and grade of solar elastosis (SE), the relationship of OBs to elastotic material, the presence of elastotic fibers transitioning to OBs, and positivity of bodies with Verhoeff-van Gieson elastic tissue stain.
RESULTS
Elastic fibers are uncommonly reported as the major precursor tissue of OBs. SE was uniformly present in our cases, and the majority demonstrated heavy/high-grade elastosis. Elastotic fibers transitioning to OBs were observed in all cases, and the bodies demonstrated Verhoeff-van Gieson positivity.
LIMITATIONS
Small sample size.
CONCLUSIONS
Ochronotic body formation is associated with SE, and bodies appear to arise from damaged elastic fibers.
Topics: Elastic Tissue; Humans; Hydroquinones; Ochronosis; Retrospective Studies
PubMed: 32701691
DOI: 10.1097/DAD.0000000000001571 -
Portuguese Journal of Cardiac Thoracic... Jan 2022Near infrared spectroscopy is a non-invasive method to assess regional oxygenation and is being used in transcatheter aortic valve implantation to document periods of... (Review)
Review
Near infrared spectroscopy is a non-invasive method to assess regional oxygenation and is being used in transcatheter aortic valve implantation to document periods of cerebral hypoperfusion, where cerebrovascular events are one of the most feared complications. Alkaptonuria is a rare metabolic disease characterized by accumulation of homogentisic acid in tissues and body fluids. The accumulation of pigment might interfere with the absorption of near infrared light, used in near infrared spectroscopy monitoring. We present a case of near infrared spectroscopy failing to accurately monitor cerebral oximetry in a woman, with alkaptonuria, undergoing a transcatheter aortic valve implantation.
Topics: Alkaptonuria; Cerebrovascular Circulation; Female; Humans; Ochronosis; Oximetry; Spectroscopy, Near-Infrared
PubMed: 35334175
DOI: 10.48729/pjctvs.224 -
Journal of Medical Case Reports Oct 2022We present this report of a new ophthalmic finding in a patient with ochronosis.
BACKGROUND
We present this report of a new ophthalmic finding in a patient with ochronosis.
CASE PRESENTATION
An 85-year-old Caucasian male patient with bilateral dark temporal and nasal pigmentation of conjunctiva and sclera was referred to our hospital owing to low visual acuity. On biomicroscopic examination, bilateral horizontal Descemet's membrane folds were observed. Corneal tomography revealed irregular and asymmetric "against-the-rule" astigmatism in both eyes. Anterior segment optical coherence tomography demonstrated numerous central Descemet's without edema or other corneal structure alterations.
CONCLUSION
This is the first report of Descemet's membrane folds in ochronosis. These corneal findings suggest that the accumulation of homogentisic acid in the sclera leads to thickening and stiffness of this region. These alterations could remarkably decrease visual acuity owing to topographic corneal curvature alterations, especially in elderly patients.
Topics: Aged; Aged, 80 and over; Cornea; Descemet Membrane; Homogentisic Acid; Humans; Male; Ochronosis; Visual Acuity
PubMed: 36183119
DOI: 10.1186/s13256-022-03599-x -
Journal of the American Academy of... Apr 1993
Topics: Administration, Cutaneous; Dermatologic Agents; Facial Dermatoses; Female; Humans; Hydroquinones; Middle Aged; Ochronosis
PubMed: 8463477
DOI: 10.1016/s0190-9622(08)81794-x