| Autor: |
Gibson, Jasmine, Gaghan, Lindsey J., Henebeng, Esther B., Bercovitch, Lionel, DiMarco, Christopher |
| Předmět: |
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| Zdroj: |
Pediatric Dermatology; Nov2024, Vol. 41 Issue 6, p1223-1225, 3p |
| Abstrakt: |
A 7-year-old boy presented with a firm reddish-pink nodule on his knee, diagnosed as tuberous xanthoma (TX) with familial hypercholesterolemia (FH). The lesion was histopathologically confirmed, and genetic testing revealed pathogenic variants in the LDLR gene. Treatment with rosuvastatin and ezetimibe was initiated, with potential future options including monoclonal antibody therapies. The differential diagnosis included juvenile xanthogranuloma, Spitz nevus, and solitary mastocytoma. Early diagnosis and treatment of TXs, especially in patients with FH, are crucial for preventing cardiovascular complications. [Extracted from the article] |
| Databáze: |
Complementary Index |
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