case_images: PMC11759448_01
case_images: Mesh pigmentation on the exposed areas of the skin on both hands (a) and feet (b)
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case_images: PMC11759448_01_13256_2025_5031_Fig1_HTML.jpg
case_images: Fig1
case_images: However, there were mesh pigmentations on the exposed areas of the skin on both hands and feet (Fig. 1a, b).
case_images: Enhanced computed tomography scan of the abdomen showing varicose veins in the lower esophagus and gastric fundus (a), dilation of main portal vein, and splenomegaly (b)
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case_images: PMC11759448_01_13256_2025_5031_Fig2_HTML.jpg
case_images: Fig2
case_images: A computed tomography (CT) scan of the abdomen revealed multiple varicose veins in the lower esophagus and gastric fundus (Fig. 2), widening of the main vein (diameter of main portal vein of 16.5 cm), and splenomegaly (spleen thickness of 5.5 cm).
case_images: Gastroscopy revealing severe varicose veins in the lower esophagus (a) and gastric fundus (b)
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case_images: Fig3
case_images: Gastroscopy showed severe varices in the lower esophagus and cardia (Fig. 3a, b).
case_images: Histological findings of liver biopsy: a Reticulin stain showing the regenerative nodularity of the parenchyma (200x); b H&E stain showing one hepatic artery (red arrow) with a diameter larger than the parallel portal vein (black arrow) (400x); c Masson stain showing perisinusoidal fibrosis and incomplete septa connected to the portal area (200x); d immunohistochemistry revealing a few CK7-positive hepatocytes around some portal areas (200x) and (e) CD34 positivity in extensive sinusoidal endothelial cells (200x)
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case_images: PMC11759448_01_13256_2025_5031_Fig4_HTML.jpg
case_images: Fig4
case_images: Reticulin staining of the liver biopsy revealed nodular regenerative hyperplasia (Fig. 4a) and Masson staining showed perisinusoidal fibrosis and incomplete septa connected to the portal area (Fig. 4c), suggesting mild ischemic liver fibrosis and no evidence of cirrhotic change of the liver. Hematoxylin and eosin (H&E) staining showed dilation of one hepatic artery in the portal area (Fig. 4b). Immunohistochemical stains revealed a few CK7-positive hepatocytes around some portal areas (Fig. 4d) and CD34 positivity in extensive sinusoidal endothelial cells (Fig. 4e).
case_images: Electropherogram showing heterozygosity for the c.2286 + 1G > A mutation in the TERT gene of the patient, occurring de novo (red arrow) (a). This mutation is not seen in his father (b) or mother (c) (blue arrows)
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case_images: PMC11759448_01_13256_2025_5031_Fig5_HTML.jpg
case_images: Fig5
case_images: TERT gene of the patient occurred de novo (Fig. 5a), as this mutation was not detected in his parents (Fig. 5b, c).