A patient with dyskeratosis congenita and portal hypertension

Portal hypertension (PH) refers to a collection of syndromes characterized by an increase in pressure within the portal venous system and/or elevated portal venous blood flow, most commonly caused by cirrhosis. This condition is frequently associated with viral hepatitis and chronic alcohol abuse, and its complications, such as ascites, hepatic encephalopathy, and esophageal varices, have a considerable impact on mortality. Dyskeratosis congenita (DC) is a rare genetic disorder that affects multiple systems, most notably manifesting as dystrophy of the fingernails and toenails, skin pigmentation, and mucosal leukoplakia. While cirrhotic PH is an uncommon complication of DC, we present a case of a young patient who presented with PH and had no history of hepatitis or heavy alcohol use. The patient underwent splenectomy and devascularization to treat hypersplenism and esophagogastric varices caused by PH but developed portal vein thrombosis following the surgery. Given the patient's cutaneous manifestations and cirrhosis that could not be attributed to common causes, we continued to search for the underlying cause of PH until the diagnosis of DC was finally made. The patient was subsequently treated with carvedilol to prevent variceal rebleeding and showed no significant complications or bleeding during follow-up.