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Clinical 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 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.
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 PDFArticle 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.
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.
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