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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 PDFArticle Synopsis
- The study investigates the role of Demodex mites in the development of eyelid papillomas, focusing on how their presence may influence the tumor's histomorphological characteristics.
- Histomorphological examinations revealed demodectic infection indicators, such as cystic formations and remnants of the mite, in nearly half of the analyzed cases, found within tumor tissues and surrounding structures.
- The findings suggest that these cavity defects created by mite activity may serve as indicators of Demodex infestation, with implications for understanding their impact on various eyelid tumors, including keratoacanthomas and senile keratosis.
Aesthetic Surgical Treatment of Large Xanthelasma palpebrarum.
Aesthetic Plast Surg
December 2024
Department of Plastic and Reconstructive Surgery, The First Affiliated Hospital of Wannan Medical College, Wuhu, Anhui Province, People's Republic of China.
Background: Xanthelasma palpebrarum (XP) is a common eyelid condition. Various treatment modalities exist, each with its own merits and drawbacks. Managing larger lesions poses increased challenges.
View Article and Find Full Text PDFValidation 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.
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