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Cerebrotendinous xanthomatosis: A complex interplay between a clinically and genetically heterogeneous condition.
Eur J Neurol
January 2025
Brain and Mind Centre, University of Sydney, Camperdown, New South Wales, Australia.
Article Synopsis
- CTX (cerebrotendinous xanthomatosis) is a rare genetic lipid storage disease that can be difficult to diagnose due to its varied symptoms, often leading to confusion with other conditions like hereditary spastic paraplegia (HSP).
- A case study of a 53-year-old woman showed a 25-year history of spastic paraparesis and, after years of undiagnosed progression, she was finally diagnosed with CTX through genetic testing revealing a variant in the CYP27A1 gene.
- The patient's treatment included chenodeoxycholic acid, which stabilized her condition, but the advanced state of her disease limited improvement, highlighting the need for thorough investigation and awareness of CTX
Effective treatment of xanthelasma palpebrarum using Er:YAG laser.
Lasers Med Sci
January 2025
Department of Plastic and Reconstructive Surgery, Korea University College of Medicine, Korea University Anam Hospital, Seoul, South Korea.
Xanthelasma palpebrarum (XP), characterized by soft, yellowish plaque primarily on the eyelids, is often associated with lipid metabolism disorders. XP can cause aesthetic concerns that affect social interactions and requires careful treatment evaluations due to potential complications and associations with systemic conditions. We aimed to assess the efficacy of and recurrence rates with erbium:yttrium aluminum garnet (Er:YAG) laser therapy in the treatment of XP.
View Article and Find Full Text PDFSevere Xanthogranulomatous prostatitis mimicking prostate cancer: a case report.
J Med Case Rep
December 2024
College of Medicine, Sulaiman AlRajhi University, Albukayriyah, Qassim, Saudi Arabia.
Background: Xanthogranulomatous prostatitis is a rare, noncancerous inflammatory condition of the prostate that clinically resembles prostatic carcinoma, necessitating a pathological examination for accurate diagnosis.
Case Presentation: A 75-year-old Egyptian male presented with urinary symptoms and an elevated serum prostate-specific antigen. Initial clinical and imaging findings suggested a locally advanced carcinoma of the prostate.
Validation of physical examinations of tendon xanthomas and changes in the cutoff values of Achilles tendon thickness on radiography in the clinical criteria of heterozygous familial hypercholesterolemia in Japan.
J Clin Lipidol
November 2024
Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan (Drs Tada, Usui, Sakata, and Takamura).
Article Synopsis
- - The modified 2022 Japan Atherosclerosis Society criteria for familial hypercholesterolemia (FH) changed the Achilles tendon thickness (ATT) cutoff values, lowering them for both men and women compared to previous standards.
- - A study of 872 FH patients revealed that those with ATT between the new cutoffs had a significantly higher rate of positive FH mutations (55.9%) compared to the lowest ATT group (14.0%).
- - The findings suggest that the updated ATT criteria more accurately identify FH cases, highlighting the risk of underdiagnosing FH when relying solely on physical examinations for tendon xanthomas.
A scoring-based clinical grading model for xanthelasma palpebrarum: predicting treatment frequency and prognosis.
Arch Dermatol Res
September 2024
Department of Plastic and Reconstructive Surgery, East Hospital, Affiliated to Tongji University, No. 150, Jimo Road, Pudong New District, Shanghai, China.
Article Synopsis
- Xanthelasma palpebrarum is a common skin condition characterized by yellowish lesions, and while there are treatment options, they often face issues with recurrence and frequency.
- Researchers created a clinical scoring system based on the local injection of pingyangmycin, aimed at predicting treatment outcomes for patients with this condition.
- The study analyzed 246 patient cases and identified key risk factors, using statistical models to validate a new grading system that has shown promise for improving treatment approaches in future clinical practice.
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