title: A case of dyskeratosis congenita with portal hypertension associated with jugular venous anomaly.
abstract: Dyskeratosis congenita is an unusual inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Bone marrow failure and various abnormalities including genitourinary, pulmonary, skeletal, neurological, ophthalmic, dental and gastrointestinal have been reported. Portal hypertension is an extremely rare manifestation. Although arterio-venous fistulas in the lungs have been reported, gross peripheral vascular abnormality associated with the disease has not been published until now. We describe a case of dyskeratosis congenita with portal hypertension and associated coagulopathy in whom transjugular liver biopsy could not be performed because of a vascular anomaly at the bifurcation of the internal jugular and subclavian veins.
authors.affiliation: Department of Gastroenterology, GATA Haydarpaşa Training Hospital, Istanbul, Turkey. yusyazgan@hotmail.com
authors.forename: Yusuf
authors.initials: Y
authors.lastname: Yazgan
authors.forename: Levent
authors.initials: L
authors.lastname: Demirtürk
authors.forename: Melih
authors.initials: M
authors.lastname: Ozel
authors.forename: Cinar
authors.initials: C
authors.lastname: Başekim
mesh_terms: D000328:Adult; D001707:Biopsy, Needle; D019871:Dyskeratosis Congenita / Q000150:complications*; D006801:Humans; D006975:Hypertension, Portal / Q000150:complications*; D007601:Jugular Veins / Q000002:abnormalities*; D008099:Liver / Q000473:pathology; D008297:Male; D013350:Subclavian Vein / Q000002:abnormalities