title: Dyskeratosis congenita with portal hypertension of unknown etiology.
abstract: Dyskeratosis 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.
authors.affiliation: Department of Medicine, Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai 400 022.
authors.forename: Neelam N
authors.initials: NN
authors.lastname: Redkar
authors.forename: Dharmendra B
authors.initials: DB
authors.lastname: Pandey
authors.forename: H R
authors.initials: HR
authors.lastname: Jerajani
authors.forename: Rupal
authors.initials: R
authors.lastname: Padhiyar
authors.forename: Aniruddha
authors.initials: A
authors.lastname: Dhokare
mesh_terms: D000328:Adult; D001706:Biopsy; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D006975:Hypertension, Portal / Q000150:complications* / Q000175:diagnosis; D007601:Jugular Veins / Q000000981:diagnostic imaging*; D007972:Leukoplakia, Oral / Q000150:complications / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D009260:Nail Diseases / Q000150:complications; D010198:Pancytopenia / Q000150:complications; D012867:Skin / Q000473:pathology; D014463:Ultrasonography