• J Assoc Physicians India · Apr 2011

    Case Reports

    Dyskeratosis congenita with portal hypertension of unknown etiology.

    • Neelam N Redkar, Dharmendra B Pandey, H R Jerajani, Rupal Padhiyar, and Aniruddha Dhokare.
    • Department of Medicine, Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai 400 022.
    • J Assoc Physicians India. 2011 Apr 1; 59: 260-3.

    AbstractDyskeratosis Congenita (DKC) is a rare progressive bone 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 hereby report a case of an adult male who presented with pancytopenia, abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. Skin biopsies along with clinical features confirmed the case. Imaging studies were reported as suggestive of and portal hypertension. Liver biopsy done but non-conclusive. Patient's one son and one daughter also had similar skin pigmentation.

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