title: Liver failure due to hepatic angiosarcoma in an adolescent with dyskeratosis congenita.
abstract: Dyskeratosis congenita (DC) is a multisystem disease caused by genetic mutations that result in defective telomere maintenance. Herein, we describe a 17-year-old patient with severe DC, manifested by bone marrow failure, severe immunodeficiency, and enterocolitis requiring prolonged infliximab therapy, who developed fatal hepatic failure caused by an aggressive, infiltrating hepatic angiosarcoma. Although DC patients have known increased risk of developing liver failure and multiple types of malignancy, this report is the first to describe angiosarcoma in a DC patient. Malignancy should thus be considered in the differential diagnosis of progressive liver dysfunction in DC patients.
authors.affiliation: Divisions of *Hematology †Oncology §Immunology, Department of Pediatrics ‡Pathology and Laboratory Medicine, Abramson Research Center, The Children's Hospital of Philadelphia ¶Department of Medicine, University of Pennsylvania, Philadelphia, PA ∥Division of Hematology/Oncology, Center for Cancer and Blood Diseases, A.I. duPont Hospital for Children, Wilmington, DE.
authors.forename: Timothy S
authors.initials: TS
authors.lastname: Olson
authors.forename: Elaine S
authors.initials: ES
authors.lastname: Chan
authors.forename: Michele E
authors.initials: ME
authors.lastname: Paessler
authors.forename: Kathleen E
authors.initials: KE
authors.lastname: Sullivan
authors.forename: Christopher N
authors.initials: CN
authors.lastname: Frantz
authors.forename: Piere
authors.initials: P
authors.lastname: Russo
authors.forename: Monica
authors.initials: M
authors.lastname: Bessler
mesh_terms: D000293:Adolescent; D019871:Dyskeratosis Congenita / Q000150:complications / Q000473:pathology; D006394:Hemangiosarcoma / Q000209:etiology / Q000473:pathology; D006801:Humans; D017093:Liver Failure / Q000209:etiology / Q000473:pathology; D008113:Liver Neoplasms / Q000209:etiology / Q000473:pathology; D008297:Male