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.
Divisions of *Hematology
§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
T.S.O. has been supported by the American Society of Hematology Research Training Award for Fellows, and by NHLBI 2 K12 HL087064. M.B. is supported by the Buck Family Endowed Chair in Hematology, and by NIH 2R01 CA105312.
The authors declare no conflict of interest.
Reprints: Timothy S. Olson, MD, PhD, Department of Pediatrics, Divisions of Hematology and Oncology, Abramson Research Center, The Children’s Hospital of Philadelphia, Suite 302, 3401 Civic Center Blvd., Philadelphia, PA 19104 (e-mail: firstname.lastname@example.org).
Received July 29, 2012
Accepted January 8, 2013