Erdheim-chester disease with bilateral proptosis, coated aorta and hairy kidney DOI Creative Commons
Nuanrat Cheerasiri, Sunisa Kongkiatkamon

Journal of Hematology and Transfusion Medicine, Journal Year: 2024, Volume and Issue: 34

Published: Aug. 28, 2024

Erdheim-Chester disease (ECD) is a rare histiocytic disorder with spectrum of clinical manifestations, ranging from asymptomatic single-organ involvement to multisystem disease. We present classic case ECD detailed radiographic and histopathologic findings. A 63-year-old Thai female history triple vessel post-PCI presented bilateral proptosis blurred vision for one year. On admission, she exhibited marked epiblepharon, lagophthalmos, conjunctival injection, chemosis, limited extraocular movement cranial nerve II palsy. Imaging showed increased retro-orbital infiltrative lesions, osteosclerotic changes, soft tissue thickening along the great vessels retroperitoneum. biopsy foamy proliferation Touton giant cells. EDC was confirmed by next-generation sequencing revealing BRAF V600E mutation. This patient received pegylated interferon-alpha. At 1-year follow-up visit, remained stable. In this report, we EDC. The rarity makes it challenging diagnose. typical presentation characteristics raise awareness diagnosis EDC, which based on features such as lesions in long bones, infiltration medium large (coated aorta) pelvicalyceal systems (hairy kidney). These findings were through pathology molecular diagnostics.

Language: Английский

Reflectance Confocal Microscopy Can Help Differentiate Adult Xanthogranulomatous Disease from Xanthelasma—A Case Report DOI Open Access

Larysa Krajewska-Węglewicz,

Monika Dźwigała, Piotr Sobolewski

et al.

Journal of Clinical Medicine, Journal Year: 2025, Volume and Issue: 14(4), P. 1359 - 1359

Published: Feb. 18, 2025

Background: Adult xanthogranulomatous disease (AXD) is a rare histiocytic disorder with systemic potential, while xanthelasma palpebrarum (XP) common xanthoma often linked to lipid disorders. Differentiating these conditions challenging due overlapping features. Reflectance confocal microscopy (RCM), non-invasive imaging tool, offers high-resolution visualization of skin structures and may aid diagnosis. Methods: We present 71-year-old woman periocular lesions. RCM was used evaluate the lesions, identifying cellular structural The findings were confirmed through histopathology, followed by surgical excision. Postoperative monitoring utilized LC-OCT. Results: identified Touton giant cells, foamy histiocytes, fibrosis, helping distinguish xanthogranuloma from xanthelasma. Histopathology diagnosis, patient underwent successful lesion excision without complications. Conclusions: This case underscores RCM's utility as diagnostic adjunct for differentiating AXD XP in sensitive regions like area. combined use LC-OCT enhances recurrence. While histopathology remains gold standard, shows promise warranting further research validate its role develop standardized clinical protocols.

Language: Английский

Citations

0
Very low-dose vemurafenib maintenance for cardiac Erdheim Chester disease DOI Open Access
Abhijeet Kumar Agrawal,

Pronamee Borah,

Padmalaya Rath

et al.

Blood Research, Journal Year: 2025, Volume and Issue: 60(1)

Published: April 11, 2025

Language: Английский

Citations

0
Clinical Reasoning: A 59-Year-Old Man With Progressive Dysarthria and Gait Instability DOI
Dongchao Shen, Zhe Zhang, Hongzhi Guan

et al.

Neurology, Journal Year: 2025, Volume and Issue: 104(12)

Published: May 22, 2025

We report a 59-year-old man with progressively deteriorating neurologic presentation characterized by dysarthria and gait instability. Neurologic examination revealed pseudobulbar palsy, cerebellar ataxia, pyramidal signs. Neuroimaging demonstrated irregular brainstem lesions minimal mass effect partial enhancement. Bilateral heel swelling, an uncommon clinical presentation, prompted further diagnostic evaluation. This case highlights the importance of systematic reasoning approach, emphasizing differential diagnosis, investigative modalities, treatment options for this rare condition, particular attention to potential multisystem involvement.

Language: Английский

Citations

0
Erdheim-chester disease with bilateral proptosis, coated aorta and hairy kidney DOI Creative Commons
Nuanrat Cheerasiri, Sunisa Kongkiatkamon

Journal of Hematology and Transfusion Medicine, Journal Year: 2024, Volume and Issue: 34

Published: Aug. 28, 2024

Erdheim-Chester disease (ECD) is a rare histiocytic disorder with spectrum of clinical manifestations, ranging from asymptomatic single-organ involvement to multisystem disease. We present classic case ECD detailed radiographic and histopathologic findings. A 63-year-old Thai female history triple vessel post-PCI presented bilateral proptosis blurred vision for one year. On admission, she exhibited marked epiblepharon, lagophthalmos, conjunctival injection, chemosis, limited extraocular movement cranial nerve II palsy. Imaging showed increased retro-orbital infiltrative lesions, osteosclerotic changes, soft tissue thickening along the great vessels retroperitoneum. biopsy foamy proliferation Touton giant cells. EDC was confirmed by next-generation sequencing revealing BRAF V600E mutation. This patient received pegylated interferon-alpha. At 1-year follow-up visit, remained stable. In this report, we EDC. The rarity makes it challenging diagnose. typical presentation characteristics raise awareness diagnosis EDC, which based on features such as lesions in long bones, infiltration medium large (coated aorta) pelvicalyceal systems (hairy kidney). These findings were through pathology molecular diagnostics.

Language: Английский

Citations

0