A case of dyskeratosis congenita with portal hypertension associated with jugular venous anomaly

Classic dyskeratosis congenita (DC) is an unusual inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia (1). Bone marrow failure, which occurs in approximately 50% of cases, and predisposition to malignancy are principal causes of early mortality (2, 3, 4). The X-linked recessive, autosomal recessive and autosomal dominant forms of the disease are recognized (5), along with genitourinary, pulmonary, skeletal, neurological, ophthalmic, dental and gastrointestinal abnormalities (2, 4, 6, 7). Gastrointestinal findings, such as esophageal strictures, hepatomegaly or cirrhosis, are seen in 10% of cases (8). A possible association with noncirrhotic portal hypertension has also been suggested (8, 9). No gross peripheral vascular abnormality has been reported until now. Transvenous liver biopsy, which is usually used in disorders associated with coagulopathies, is a safe method, with a mortality rate of 0.0% to 0.5% (10).