1,129 results match your criteria: "Ochronosis"
An anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone.
J Anat
December 2024
Human Anatomy Resource Centre, Education Directorate, University of Liverpool, Liverpool, UK.
Ochronotic pigmentation of connective tissue is the central pathological process in the rare metabolic disease alkaptonuria (AKU). Tissue pigmentation in AKU occurs due to unmetabolised homogentisic acid (HGA) in the circulation, caused by an enzyme deficiency in the liver. Ochronotic pigmentation, derived from HGA, has previously been reported and described in large joints obtained from arthroplasty surgeries, which typically have advanced disease.
View Article and Find Full Text PDFClinical Efficacy of Cysteamine Application for Melasma: A Meta-Analysis.
J Clin Med
December 2024
20skin Four Seasons Clinic, Taichung 408, Taiwan.
Melasma is a challenging, acquired hyperpigmentary disorder. The gold standard treatment is Kligman's formulation, which contains hydroquinone, tretinoin, and dexamethasone, but its long-term use is limited by the risk of exogenous ochronosis. Cysteamine, a tyrosinase inhibitor, reduces melanocyte activity and melanin production, showing strong depigmenting effects in patients resistant to Kligman's formulation.
View Article and Find Full Text PDFBlackish Discoloration of Articular Cartilage during Total Knee Replacement; a Case Report.
J Orthop Case Rep
December 2024
Department of Orthopaedics, Government Medical College Trivandrum, Kerala, India.
Introduction: Alkaptonuria is a rare metabolic disorder that follows an autosomal recessive genetic inheritance pattern. It is distinguished by the buildup of homogentisic acid in tissues due to deficient homogentisic acid oxidase enzyme activity. The excess homogentisic acid is expelled through urine, darkening it on oxidation.
View Article and Find Full Text PDFA case of exogenous ochronosis in a Japanese patient: Capillaroscopic findings and literature review.
J Dermatol
December 2024
Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan.
Black tendon-identifying a rare autosomal recessive disorder: Intraoperative diagnosis of alkaptonuria: A case report.
SAGE Open Med Case Rep
October 2024
Department of Orthopaedics, Kasturba Medical College, Manipal, Karnataka, India.
Tendon injuries in the lower extremities are common in physically active individuals, although spontaneous Achilles tendon ruptures are linked to oral corticosteroid or fluoroquinolone use. Such ruptures are typically due to degenerative changes within the tendon and frequently occur during sudden dorsiflexion of a plantar-flexed foot. Bilateral spontaneous ruptures are especially prevalent in patients undergoing long-term corticosteroid therapy.
View Article and Find Full Text PDFDirect repair of the chronic ochronotic Achilles tendon rupture: a case report.
BMC Musculoskelet Disord
October 2024
Division of Orthopaedic Surgery, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, University of Miyazaki, Kihara, Kiyotake, Miyazaki, 5200, 889-1692, Japan.
Article Synopsis
- Alkaptonuria (AKU) is a rare genetic disorder that can lead to musculoskeletal issues like joint pain and tendon problems, complicating surgical treatments for conditions like chronic Achilles tendon rupture.
- A 60-year-old woman with AKU experienced persistent left hindfoot pain and was diagnosed with a chronic Achilles tendon rupture, which was confirmed by MRI showing scar tissue.
- Surgical repair of the tendon using the scar tissue was successful, with significant improvement in the patient's pain and tendon function recorded at 12 and 18 months post-surgery, highlighting the importance of careful surgical planning in such cases.
Alkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large weight bearing joints. We report on a middle-aged female patient with bilateral severe ochronotic arthritis of both hips and shoulder joints requiring total joint replacements as staged procedures which were done without complications offering a complete pain relief and a satisfactory clinical and functional outcome.
View Article and Find Full Text PDFA case of alkaptonuria presenting with unexplained dark-stained diapers and spurious hyperoxaluria and proteinuria due to homogentisic acid interference.
Biochem Med (Zagreb)
October 2024
Clinical Department of Laboratory Medicine, UZ Leuven, Leuven, Belgium.
Alkaptonuria is characterized by the accumulation of homogentisic acid which causes dark coloration of urine upon standing, ochronosis, and arthritis. A 4-year old child was referred to our pediatric nephrologist with hyperoxaluria and a history of unexplained pink-to-brown discolouration of his diapers associated with a brown-staining of clothes and skin since he was six months old. He had no other symptoms and his past medical history only included minor child illnesses.
View Article and Find Full Text PDFA heart so black: a case of alkaptonuric ochronosis of the aortic and mitral valves in a female patient with severe aortic valve stenosis and coronary artery disease.
J Surg Case Rep
October 2024
Cardiac Innovation Center, Apollonion Hospital, Lefkotheou 20, Nicosia, Nicosia 2054, Cyprus.
Article Synopsis
- Alkaptonuric ochronosis is a condition caused by the buildup of homogentisic acid in body tissues, often associated with the rare genetic disorder alkaptonuria due to a specific enzyme deficiency.
- A case report describes a 64-year-old woman with serious heart issues who exhibited ochronotic pigmentation in her heart valves and surrounding structures, highlighting the condition's impact on cardiovascular health.
- This case underscores the importance of considering ochronosis as a potential factor in diagnosing valvular diseases even when a patient hasn’t been previously diagnosed with alkaptonuria.
Exogenous Ochronosis With Vitiligo: A Therapeutic Challenge.
Skin Res Technol
October 2024
Department of Dermatology, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria.
J Cell Physiol
December 2024
Dipartimento di Biotecnologie, Chimica e Farmacia, Università di Siena, Siena, Italy.
Article Synopsis
- Alkaptonuria (AKU) is a hereditary metabolic disorder that primarily affects cartilage, leading to early osteoarthritis due to a process called ochronosis.
- Researchers faced challenges in studying AKU using human chondrocytes but overcame this by creating an in vitro model using immortalized C20/A4 cells treated with homogentisic acid (HGA), mimicking AKU conditions.
- This model revealed important insights, including oxidative stress and inflammatory responses linked to AKU, as well as potential amyloid fibril formation, highlighting its usefulness for understanding the disease and aiding in drug development.
Diffuse Facial Leukoderma Secondary to Localized Use of Hydroquinone.
Cureus
August 2024
Dermatology, Henry Ford Health, Detroit, USA.
Article Synopsis
- - Disorders of hyperpigmentation are common and hydroquinone is a widely used treatment, despite potential side effects like acne, skin discoloration (ochronosis), and irritation.
- - Rarely, hydroquinone can cause leukoderma, typically limited to the area where it is applied, but a unique case is reported involving widespread facial leukoderma from localized use.
- - The reported leukoderma can be effectively treated using methods for vitiligo, if addressed promptly and correctly.
A rare differential diagnosis of aortic stenosis with a black aortic valve: A case report.
Egypt Heart J
September 2024
Department of Cardiothoracic and Vascular Surgery, Sree Chitra Tirunal Institute for Medical Sciences & Technology, Thiruvananthapuram, Kerala, 695011, India.
Article Synopsis
- Cardiac ochronosis is a rare condition linked to alkaptonuria, characterized by black pigmentation in cardiac structures, discovered in a 60-year-old woman during valve replacement surgery for severe aortic stenosis.
- Intraoperatively, the presence of a pigmented aortic valve led to the diagnosis of alkaptonuria, prompting a switch from a bioprosthetic to a mechanical valve for better long-term outcomes.
- Post-surgery, the patient was discharged without complications, with plans for regular follow-up to monitor her valve function and manage her condition's progression.
Article Synopsis
- Alkaptonuria is a rare genetic disorder inherited in an autosomal recessive manner, caused by a mutation in the homogentisic acid dioxygenase gene, affecting 1 in 100,000 to 250,000 people globally.
- The condition leads to a buildup of homogentisic acid, causing joint and connective tissue issues, resulting in blue-black discoloration known as ochronosis.
- A 47-year-old male patient experienced worsening symptoms despite treatments like physiotherapy and vitamin C, compounded by the unavailability of the more effective drug nitisinone in his country; the case underscores the need for improved treatment access and serves as a comparison to other reported cases.
Perioperative anaesthetic management of an elderly high-risk male with cardiac ochronosis undergoing aortic valve replacement with coronary artery bypass graft: A case report.
J Perioper Pract
August 2024
Department of Cardiac Anaesthesiology, G. Kuppuswamy Naidu Memorial Hospital, Coimbatore, India.
Article Synopsis
- * The condition can cause serious heart problems, such as valve stenosis and regurgitation, impacting about 10% of individuals and potentially leading to heart failure.
- * This report details the effective anesthesia management of a 74-year-old man with cardiac issues from alkaptonuria who successfully underwent surgery for an aortic valve replacement and coronary artery bypass grafting.
Avulsive Achilles Tendon Rupture in a Patient With Alkaptonuria: A Case Report.
Cureus
June 2024
Orthopedics and Traumatology, Unidade Local de Saúde de Barcelos/Esposende, Barcelos, PRT.
Article Synopsis
- Alkaptonuria is a genetic disorder that leads to the accumulation of homogentisic acid, causing black pigmentation in joints and connective tissues, which can lead to severe damage.
- A 71-year-old man with alkaptonuria experienced an Achilles tendon rupture after a minor fall, which was confirmed by MRI and required surgical intervention.
- The surgery involved reinserting the tendon with a specialized technique to ensure better load distribution, and the patient successfully regained functionality within a year, showing positive outcomes despite the rare and fragile condition.
Anaesthesia Considerations in a Case of Alkaptonuria Posted for Total Knee Arthroplasty.
Cureus
June 2024
Orthopaedics, RNH Hospital Pvt. Ltd., Nagpur, IND.
Article Synopsis
- Alkaptonuria is a rare genetic disorder characterized by the buildup of homogentisic acid in collagenous tissues, resulting in discoloration and degeneration of joints, particularly affecting the spine and limbs.
- The condition can lead to pain, restricted mobility, and complications involving heart valves and kidneys, posing significant challenges in administering anesthesia.
- A report discusses the anesthetic management of a patient with alkaptonuria undergoing total knee arthroplasty, emphasizing the need for careful planning to address the unique difficulties presented.
Article Synopsis
- A patient with a decade-long history of blue-black skin lesions attributed to skin-lightening creams was diagnosed with exogenous ochronosis (EO), despite an inconclusive biopsy.
- EO is characterized by hyperpigmentation from hydroquinone products, commonly affecting Black populations due to widespread use.
- Accurate recognition of EO's clinical features by dermatologists is essential for early diagnosis and can prevent progression to more severe skin symptoms.
Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform.
Cells
June 2024
ONE-HEALTH Lab, Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.
Article Synopsis
- Alkaptonuria (AKU) is a genetic disorder that leads to degradation of connective tissues, causing issues like cartilage damage, tendon calcification, and early-onset osteoarthritis due to the build-up of homogentisic acid (HGA).
- HGA is reactive and promotes oxidative stress and inflammation, resulting in widespread, irreversible damage to the body.
- The review discusses inflammation and oxidative stress in AKU, explores the molecular mechanisms involving HGA, and introduces ApreciseKUre, a digital platform for analyzing AKU-related data.
Ease of sutureless aortic valve replacement in a patient with unexpected ochronosis: a case report.
J Cardiothorac Surg
June 2024
Heart Valve Diseases Research Center, Rajaie Cardiovascular Medical and Research Center, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Article Synopsis
- Alkaptonuria is a rare genetic disorder that leads to the buildup of homogentisic acid in the body, causing various health issues like joint pain, skin and eye pigmentation, and potential heart problems.
- In a recent surgical case, a patient with alkaptonuria was found to have cardiac ochronosis, which affected the approach to aortic valve replacement surgery.
- Surgeons should be aware of cardiac ochronosis in patients with aortic stenosis and consider underlying alkaptonuria symptoms when planning treatment.
Alkaptonuria with Fracture Neck of Femur - A Case Report.
J Orthop Case Rep
June 2024
Department of Orthopaedics, Christian Medical College, Vellore, Tamil Nadu, India.
Article Synopsis
- Alkaptonuria is a rare genetic disorder leading to dark pigmentation in connective tissues, often causing joint problems but typically not bone fractures.
- A 60-year-old woman with no prior hip pain suddenly experienced left hip pain, which was diagnosed as a displaced neck of the femur fracture, and she underwent surgery.
- Post-surgery, her urine test confirmed alkaptonuria, and she showed excellent recovery at her one-year follow-up, emphasizing the importance of recognizing this condition in unusual fracture cases.
Pseudofilariasis, a Presenting Sign of Alkaptonuria.
Cornea
December 2024
Ophthalmic Consultants of Long Island, Rockville Centre, NY.
Purpose: To report the association of Pseudofilariasis as a presenting sign of Alkaptonuria.
Method: Case Report.
Results: A 49-year-old Indian man was referred because of wormlike objects in his left conjunctiva.
Joint replacement risk is markedly increased in alkaptonuria (AKU) in those with prior arthroplasty.
Mol Genet Metab Rep
September 2024
Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK.
Article Synopsis
- Increased levels of homogentisic acid (HGA) in alkaptonuria (AKU) lead to severe arthritis, and while nitisinone reduces HGA production, its impact on joint replacement (arthroplasty) rates was studied in 237 AKU patients.
- In the SONIA 2 study, patients were divided into groups based on their existing joint replacements and nitisinone use, revealing significant differences in new joint replacement probabilities across these subgroups.
- The findings indicated that the frequency and timing of joint replacements occurred earlier in patients who had joint replacements before starting nitisinone, suggesting that nitisinone did not influence the incidence of arthroplasty.
Disc-coloration of an ochronotic cervical intervertebral disc in a patient with alkaptonuria: Case report and review of the literature.
Clin Neurol Neurosurg
July 2024
Department of Neurosurgery, Ziekenhuis Oost-Limburg, Genk 3600, Belgium.
Article Synopsis
- Alkaptonuria is a rare genetic disorder leading to the buildup of homogentisic acid, causing tissue damage and notable symptoms like ochronosis and spinal issues, particularly affecting the lumbar and occasionally cervical spine.
- A literature review was conducted on cervical spine changes in alkaptonuria patients, alongside the case of a 46-year-old with severe cervical spinal canal stenosis who underwent surgery for it.
- The study found no visible abnormalities during surgery except for a black discoloration of the intervertebral disc, indicating that such discoloration could signal potential alkaptonuria and warrant further investigation.