We describe the case of 2 male siblings with dyskeratosis congenita (DC). Extensive genetic analysis failed to identify a causative genetic abnormality. The elder brother developed hepatic fibrosis accompanied with hepatic vein thrombosis at the age of 9 years. Recent studies have found that patients with DC sometimes develop hepatic complications, including cirrhosis. However, little is known about hepatic complications in patients with DC who lack these mutations. Further genetic studies are required to understand the relationship between DC and hepatic complications. In addition, although danazol can sometimes be effective for treating bone marrow failure, hepatotoxicity can be a major complication. Therefore, when danazol is administered to patients with DC, careful monitoring for hepatic complications is important.
*Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto
†Department of Pediatrics, Matsushita Memorial Hospital, Osaka
‡Department of Pediatrics, Jichi Medical University, Tochigi, Japan
Supplemental Digital Content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website, www.jpho-online.com.
Written informed consent was obtained from the patients and their parents for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
The authors declare no conflict of interest.
Reprints: Toshihiko Imamura, MD, PhD, Department of Pediatrics, Kyoto Prefectural University of Medicine, 465 Kajii-cho Hirokoji, Kamigyo-ku, Kyoto 602-8566, Japan (e-mail: firstname.lastname@example.org).
Received December 20, 2012
Accepted August 20, 2013