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The clinical and demographic characteristics of patients with late-diagnosed cerebrotendinous xanthomatosis in a Turkish population.
J Clin Lipidol
August 2024
Department of Medical Genetics, Faculty of Medicine, Dicle University, Diyarbakır, Turkey (Drs Tekes).
Aim: The aim of this study was to examine the clinical, laboratory and demographic characteristics of patients diagnosed with cerebrotendinous xanthomatosis.
Materials And Methods: This study included 11 patients followed up in the Paediatric Metabolism Polyclinic for a diagnosis of CTX. The diagnosis of CTX was made from high blood cholestanol level and CYP27A1 gene analysis.
Xanthogranulomatous osteomyelitis of pubic bone mimicking neoplasm: a case report and literature review.
BMC Musculoskelet Disord
October 2024
Department of Orthopedic Surgery, College of Medicine, Chung-Ang University Hospital, Chung-Ang University, Seoul, Republic of Korea.
Article Synopsis
- - Xanthogranulomatous osteomyelitis (XO) is a rare bone disease that appears as an osteolytic lesion, and it's crucial to distinguish it from other similar conditions like bone tumors.
- - A 23-year-old woman presented with pelvic pain and febrile episodes, leading to the discovery of an osteolytic lesion in the pubic bone, which was later confirmed to be caused by an Aspergillus fungal infection after surgical removal.
- - This case highlights the importance of considering fungal infections in XO cases and suggests that specific antifungal treatments should be included in the management plan, as XO can occur due to such infections despite being predominantly associated with bacteria.
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.
A Systematic Review of Clinical Features and Treatment Outcomes of Xanthoma Disseminatum.
J Cutan Med Surg
November 2024
Toronto Dermatology Centre, North York, ON, Canada.
Article Synopsis
- Xanthoma disseminatum (XD) is a rare skin condition within the group of non-Langerhans histiocytosis, presenting mainly as yellow-to-brown lesions on the face, flexures, trunk, and genital areas, and often associated with systemic issues.
- A comprehensive review of 151 studies revealed a total of 166 cases, predominantly in females with an average diagnosis age of 35.3 years, indicating the condition's extensive extracutaneous manifestations, including those affecting the pituitary gland and oropharynx.
- Despite various treatment options explored, including cladribine, systemic steroids, and others, there are low complete response rates, highlighting the need for further research to improve management strategies for
Xanthoma combining osteonecrosis in knee joint: a case report.
BMC Musculoskelet Disord
August 2024
The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Chinese Medicine), 54 Youdian Road, Hangzhou, Zhejiang Province, 310053, China.
Article Synopsis
- * Initial treatments for her osteonecrosis did not yield significant improvements, highlighting the complexity of her condition.
- * After discovering a synovial xanthoma, the patient underwent successful arthroscopic excision, resulting in reduced pain and improved knee mobility, with no symptom recurrence noted during follow-up.
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