Dyskeratosis congenita with portal hypertension of unknown etiology.

© JAPI • APrIl 2011 • VOl. 59 Abstract Dyskeratosis Congenita (DKC) is a rare progressive boen marrow disorder associated with multi – systemic involvement. It is also characterized by triad of abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. liver cirrhosis and portal hypertension are said to be uncommon among these patients. We hrereby report a case of an adult male who presented with pancytopenia, abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Skin biopsies alongwith clinical features confirmed the case. Imaging studies were reported as suggestive of and portal hypertension. liver hiopsy done but non – conclusive. Patient’s one son and one daughter also had similar skin pigmentation. Dyskeratosis Congenita with Portal Hypertension of Unknown Etiology Neelam N Redkar***, Dharmendra B Pandey**, HR Jerajani****, Rupal Padhiyar**, Aniruddha Dhokare*