Results 1 to 10 of about 2,691 (207)

Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants [PDF]

Molecular Genetics & Genomic Medicine
Objectives Alkaptonuria (AKU) (MIM number 203500) or homogentisic acid oxidase deficiency is a metabolic autosomal recessive disorder caused by mutations in the homogentisate 1, 2‐dioxygenase (HGD) (MIM number 607474) gene.
Ahad Azami, Mohammad Jahanpanah, Yousef Imani Marani, Diana Mokhtari, Haleh Mokaber, Behzad Davarnia   +5 more
doaj   +3 more sources

Cardiac ochronosis with severe aortic and mitral valve stenosis: a challenge case [PDF]

Journal of Cardiothoracic Surgery
Ochronosis is a hereditary disorder characterized by black pigmentation in tissues. Cardiac ochronosis is most commonly associated with aortic stenosis, while mitral stenosis is a less frequently observed involvement.
Mukan Kağan Kuş, Burak Bozkurt, Talib Durak, İsmail Yücesin Arslan, Mehmet Kaplan   +4 more
doaj   +2 more sources

Exogenous ochronosis [PDF]

Dermatologica Sinica, 2015
Exogenous ochronosis (EO) is a cutaneous disorder characterized by blue-black pigmentation resulting as a complication of long-term application of skin-lightening creams containing hydroquinone but may also occur due to topical contact with phenol or ...
Wei-Li Ko
doaj   +9 more sources

Non-Insulated Microneedle Radiofrequency for the Treatment of Hydroquinone-Induced Exogenous Ochronosis: A Case Report and Literature Review [PDF]

Clinical, Cosmetic and Investigational Dermatology
Namthong Wittayabusarakam, Suthinee Rutnin, Natthachat Jurairattanaporn Division of Dermatology, Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, ThailandCorrespondence: Natthachat Jurairattanaporn, Division ...
Wittayabusarakam N, Rutnin S, Jurairattanaporn N   +2 more
doaj   +2 more sources

Blue man: Ochronosis in Otolaryngology

Clinical Case Reports (discontinued), 2022
Blue discoloration of the skin and cartilage, or ochronosis, is a rare physical examination finding. We present two cases of childhood onset ochronosis, one exogenous and one endogenous in etiology. The first was caused by minocycline use for severe acne,
Karuna Dewan, Facs, Courtney Brooke Shires   +1 more
exaly   +2 more sources

A Dark Turn in the OR: Incidental Discovery of Ochronosis during Trauma Surgery: A Case Report [PDF]

Journal of Orthopaedic Case Reports
Introduction: Alkaptonuria is a rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid (HGA) oxidase, leading to the accumulation of HGA. The polymerized oxidation products of HGA in connective tissues, a condition known as
Kumar Parth, Maulik Kothari, Hunaid Haider, Maitreya Kedar, Chittaranjan Meshram, B S Shiyam   +5 more
doaj   +2 more sources

Total knee arthroplasty in ochronosis

Arthroplasty Today, 2015
Alkaptonuria is disorder of tyrosine metabolism due to deficiency of homogentisic oxidase characterized by excretion of homogentisic acid in urine, deposition of oxidized homogensitate pigments in connective tissues and articular cartilages (ochronosis).
Vaibhav G. Patel, MBBS
exaly   +3 more sources

Ease of sutureless aortic valve replacement in a patient with unexpected ochronosis: a case report [PDF]

Journal of Cardiothoracic Surgery
Background Alkaptonuria is a rare congenital metabolic disorder characterized by homogentisic acid accumulation in body cartilage and connective tissues due to a deficient homogentisic acid dioxygenase enzyme.
Saeid Hosseini, Soheila Salari, Mohammad Javad Alemzadeh Ansari, Mahshid Hesami, Sepideh Banar, Mohammad Amin Shojaei   +5 more
doaj   +2 more sources

Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment [PDF]

EFORT Open Reviews
Alkaptonuria is an extremely rare disorder of tyrosine metabolism caused by an autosomal recessive enzymatic deficiency of homogentisic acid (HGA) oxidase, causing its accumulation in collagenous structures, especially in hyaline cartilage.
Khaled Hamed Salem, Alyaa Diaa Elmoghazy
doaj   +2 more sources

Ochronotic Arthropathy of the Shoulder – A Rare Case Report [PDF]

Journal of Orthopaedic Case Reports
Introduction: Alkaptonuria is a metabolic disorder due to accumulation of homogentisic acid, leading to destruction of major joints. Very few cases of ochronosis with shoulder involvement have been reported in literature. Case Report: We report a 31-year-
Ayyappan V Nair, Kiran V, Aravind Rajan, Bharath Bharadwaj MS, Manisha Ashwin Daware, Prince Shanavas Khan   +5 more
doaj   +2 more sources